PharmCAT Report
pharmcat
Date createdSeptember 29, 2026
PharmCAT Version3.1.1
Data Version2025-11-05-00-25

Sections

  1. Genotype Summary
  2. Prescribing Recommendations
  3. Allele Matching Details
  4. Disclaimers
Disclaimer: PharmCAT is only able to generate recommendations based on the information provided to the software. The gene and variant information for all reported sections are interpreted directly from user-supplied data. The user recognizes they are using PharmCAT at their own risk. For a full list of disclaimers and limitations see Section IV.

Section I: Genotype Summary

Genotypes called: 20 / 22

Drugs Gene Genotypes
Genotype Allele Functionality Phenotype
allopurinol
rosuvastatin
Dosing Info
Other Guidance
ABCG2 ‡
rs2231142 reference (G)/rs2231142 reference (G) Two Normal function alleles Normal Function
ivacaftor
Alternate Drug
CFTR ‡
Reference/Reference Two ivacaftor non-responsive alleles ivacaftor non-responsive in CF patients

Genotype based on missing variant input *.

efavirenz
sertraline
Dosing Info
CYP2B6 † ‡
*1/*1 Two Normal function alleles Normal Metabolizer

Genotype based on missing variant input *.

amitriptyline
brivaracetam
Dosing Info
citalopram
Dosing Info
clobazam
Dosing Info
clomipramine
clopidogrel
Alternate Drug
Dosing Info
dexlansoprazole
Dosing Info
doxepin
escitalopram
Dosing Info
imipramine
lansoprazole
Dosing Info
mavacamten
Other Guidance
omeprazole
Dosing Info
pantoprazole
Dosing Info
sertraline
Dosing Info
trimipramine
voriconazole
Other Guidance
CYP2C19 ‡
*1/*2 One No function allele and one Normal function allele Intermediate Metabolizer

Genotype based on missing variant input *.

avatrombopag
celecoxib
dronabinol
Other Guidance
flurbiprofen
fluvastatin
Alternate Drug
Dosing Info
fosphenytoin
Alternate Drug
Dosing Info
ibuprofen
lornoxicam
meloxicam
phenytoin
Alternate Drug
Dosing Info
Other Guidance
piroxicam
Dosing Info
siponimod
Dosing Info
tenoxicam
warfarin
Dosing Info
Other Guidance
CYP2C9 † ‡
*1/*2 One 0.5 (Decreased function) allele and one 1.0 (Normal function) allele Intermediate Metabolizer

Genotype based on missing variant input *.

quetiapine
CYP3A4 † ‡
*1/*1 Two Normal function alleles Normal Metabolizer

Genotype based on missing variant input *.

tacrolimus
CYP3A5 ‡
*3/*3 Two No function alleles Poor Metabolizer

Genotype based on missing variant input *.

warfarin
Dosing Info
Other Guidance
CYP4F2 † ‡
*1/*1 N/A N/A

Genotype based on missing variant input *.

capecitabine
flucytosine
fluorouracil
tegafur
DPYD †
c.1601G>A (*4) 1.0 (Normal function) See drug section
c.1627A>G (*5) 1.0 (Normal function) See drug section

Genotypes based on missing variant input *.

dapsone
methylene blue
nitrofurantoin
pegloticase
primaquine
rasburicase
tafenoquine
toluidine blue
G6PD † ‡
B (reference)/B (reference) Two IV/Normal alleles Normal

Genotype based on missing variant input *.

carbamazepine
HLA-A †
*01:01/*11:01 N/A *31:01 negative
abacavir
allopurinol
carbamazepine
fosphenytoin
Alternate Drug
Dosing Info
lamotrigine
oxcarbazepine
phenytoin
Alternate Drug
Dosing Info
Other Guidance
HLA-B †
*08:01/*56:01 N/A *15:02 negative; *57:01 negative; *58:01 negative
IFNL3/4 ‡
rs12979860 reference (C)/rs12979860 variant (T) One Favorable response allele allele and one Unfavorable response allele allele n/a
hydralazine
Dosing Info
NAT2 † ‡
*4/*5 One Decreased function allele and one Increased function allele Intermediate Metabolizer

Genotype based on missing variant input *.

azathioprine
mercaptopurine
thioguanine
NUDT15 † ‡
*1/*1 Two Normal function alleles Normal Metabolizer

Genotype based on missing variant input *.

desflurane
Alternate Drug
Other Guidance
enflurane
Other Guidance
halothane
Other Guidance
isoflurane
Alternate Drug
Other Guidance
methoxyflurane
Other Guidance
sevoflurane
Alternate Drug
Other Guidance
succinylcholine
Alternate Drug
Other Guidance
RYR1 †
Reference/Reference
Reference Normal function See drug section

Genotype based on missing variant input *.

atorvastatin
Alternate Drug
Dosing Info
Other Guidance
fluvastatin
Alternate Drug
Dosing Info
lovastatin
Alternate Drug
Dosing Info
pitavastatin
Alternate Drug
Dosing Info
pravastatin
Other Guidance
rosuvastatin
Dosing Info
Other Guidance
simvastatin
Alternate Drug
Dosing Info
Other Guidance
SLCO1B1 † ‡
*1/*15 One No function allele and one Normal function allele Decreased Function

Genotype based on missing variant input *.

azathioprine
mercaptopurine
thioguanine
TPMT † ‡
*1/*1 Two Normal function alleles Normal Metabolizer

Genotype based on missing variant input *.

atazanavir
Other Guidance
irinotecan
Dosing Info
Other Guidance
UGT1A1 † ‡
*1/*80+*28 One Decreased function allele and one Normal function allele Intermediate Metabolizer
acenocoumarol
phenprocoumon
warfarin
Dosing Info
Other Guidance
VKORC1 ‡
rs9923231 reference (C)/rs9923231 variant (T) One Higher coumarin sensitivity allele and one Normal coumarin sensitivity allele -1639 AG
* Some alleles were not considered for the genotype calls due to missing variant information. Please see Section III for details. Alleles that could not be considered due to missing input might change the metabolizer phenotype and possible recommendation.
† Check Section III for more details about this call.
‡ PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.
CPIC terms for allele function and phenotype are used for all CPIC genes. For non-CPIC genes, DPWG terms are used.
For a full list of disclaimers and limitations see Section IV.

Section II: Prescribing Recommendations

abacavir

Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
 HLA-B: Low or reduced risk of abacavir hypersensitivity Use abacavir per standard dosing guidelines Strong

DPWG Guideline Annotation 1

Genotype
HLA-B:*08:01/*56:01
 
DPWG Guideline Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA Label Annotation 1

Genotype
HLA-B:*08:01/*56:01
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association 1

Genotype
HLA-B:*08:01/*56:01
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

acenocoumarol

Source Genes Implications Recommendation Classification

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
  • VKORC1:rs9923231 reference (C)/
     rs9923231 variant (T)
Phenotype

-1639 AG

 The genetic variation results in a reduction of the required dose, but with the current practice of initiating or reviewing treatment this results in little or no increased risk of bleeding or excessive anticoagulation. NO action is needed for this gene-drug interaction. Unspecified

Citations:

allopurinol

Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
Phenotype

*58:01 negative

 HLA-B: Low or reduced risk of allopurinol-induced SCAR Use allopurinol per standard dosing guidelines Strong

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
  • ABCG2:rs2231142 reference (G)/
     rs2231142 reference (G)
Phenotype

Normal Function

 The guideline does not provide a description of the impact of the ABCG2 rs2231142 GG genotype (c.421CC; p.141QQ) on allopurinol. The guideline does not provide a recommendation for allopurinol in patients with the the ABCG2 rs2231142 GG genotype (c.421CC; p.141QQ) No recommendation

FDA Label Annotation 1

Genotype
HLA-B:*08:01/*56:01
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association 1

Genotype
HLA-B:*08:01/*56:01
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

amitriptyline

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • CYP2C19:*1/*2;
    CYP2D6:Not called - no variant data provided
Phenotypes
CYP2C19:
Intermediate Metabolizer
CYP2D6:
No Result
Activity Scores
CYP2C19:
N/A
CYP2D6:
No Result
  • CYP2C19: Reduced metabolism of tertiary amines compared to normal metabolizers
  • CYP2D6: n/a
 Initiate therapy with recommended starting dose.

Other Considerations

Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. 		Strong

Citations:

atazanavir

The assigned genotype is *1/*80+*28; however, *28/*80 cannot be ruled out without phased data.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Other Guidance
Genotype
Phenotype

Intermediate Metabolizer

 UGT1A1: Somewhat decreased UGT1A1 activity; low likelihood of bilirubin-related discontinuation of atazanavir. There is no need to avoid prescribing of atazanavir based on UGT1A1 genetic test result. Inform the patient that some patients stop atazanavir because of jaundice (yellow eyes and skin), but that this patient’s genotype makes this unlikely (less than about a 1 in 20 chance of stopping atazanavir because of jaundice).

Other Considerations

All studies correlating UGT1A1 genotypes with atazanavir adverse events have involved ritonavir boosting. However, concentration-time profiles are equivalent when boosted with either cobicistat or ritonavir (PMID 23532097), and bilirubin-related adverse events including discontinuation of atazanavir occur in a similar percentage of patients prescribed atazanavir with cobicistat or ritonavir (PMID 23532097). Associations between UGT1A1 genotype, bilirubin elevations, and atazanavir/r discontinuation therefore almost certainly translate to atazanavir/cobicistat. 		Strong

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Intermediate Metabolizer

 This gene variation (*1/*28) is more common in Western populations than the so-called wild type (*1/*1). This means that treatment choice is largely tailored to patients with this gene variation. Adjusting treatment choice is therefore not useful. NO action is needed for this gene-drug interaction. Unspecified

Citations:

atorvastatin

The assigned genotype is *1/*15; however, *5/*37 cannot be ruled out without phased data.
The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Some position data used to define SLCO1B1 alleles is missing which may change the matched genotype. See SLCO1B1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Dosing Info
Genotype
Phenotype

Decreased Function

 SLCO1B1: Increased atorvastatin exposure as compared to normal function which may translate to increased myopathy risk Prescribe ≤40mg as a starting dose and adjust doses of atorvastatin based on disease-specific guidelines. Prescriber should be aware of possible increased risk for myopathy especially for 40mg dose. If dose >40mg needed for desired efficacy, consider combination therapy (i.e., atorvastatin plus non-statin guideline directed medical therapy) (PMID: 30423391).

Other Considerations

The potential for drug-drug interactions and dose limits based on renal and hepatic function should be evaluated prior to initiating a statin. The effects of drug-drug interactions may be more pronounced resulting in a higher risk of myopathy. 		Moderate

DPWG Guideline Annotation

Population:
Unspecified

Alternate Drug
Dosing Info
Other Guidance
Genotype
Phenotype

Decreased Function

 The risk of myopathy can be elevated. The gene variation may lead to reduced atorvastatin transport to the liver, which may increase atorvastatin plasma concentrations.
  • Patient has ADDITIONAL SIGNIFICANT RISK FACTORS for statin-induced myopathy:
  1. Choose an alternative. Rosuvastatin and pravastatin are influenced to a lesser extent by the SLCO1B1 gene variation and are not influenced by CYP3A4 inhibitors such as amiodarone, verapamil and diltiazem. Fluvastatin is not influenced significantly by the SLCO1B1 gene variation or CYP3A4 inhibitors.
  2. If an alternative is not an option: keep the atorvastatin dose as low as possible (e.g. by adding ezetimibe)
  3. advise the patient to report muscle symptoms.
  • Patient has NO additional significant risk factors for statin-induced myopathy:
  1. advise the patient to report muscle symptoms.
 Unspecified

FDA PGx Association 1

Genotype
SLCO1B1:*1/*15
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

avatrombopag

Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Source Genes Implications Recommendation Classification

FDA PGx Association [Pharmacogenetic Associations for which the Data Demonstrate a Potential Impact on Pharmacokinetic Properties Only]

Affected subgroup: CYP2C9 intermediate or poor metabolizers

No Action
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 "Results in higher systemic concentrations." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

azathioprine

Some position data used to define NUDT15 alleles is missing which may change the matched genotype. See NUDT15 in Section III for for more information.
Some position data used to define TPMT alleles is missing which may change the matched genotype. See TPMT in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
Phenotypes
NUDT15:
Normal Metabolizer
TPMT:
Normal Metabolizer
  • NUDT15: Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression
  • TPMT: Lower concentrations of TGN metabolites, higher MeTIMP, this is the ‘normal’ pattern. Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression.
 Start with normal starting dose (e.g., 2-3 mg/kg/day) and adjust doses of azathioprine based on disease-specific guidelines. Allow 2 weeks to reach steady-state after each dose adjustment (PMID 20354201, 11302950, 15606506).

Other Considerations

Normal starting doses vary by race/ethnicity and treatment regimens. If standard dose is below normal recommended dose, dose reduction might not be recommended for intermediate metabolizers. 		Strong

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Normal Metabolizer

 The guideline does not provide a description of the impact of a normal metabolizer phenotype on azathioprine. The guideline does not provide a recommendation for azathioprine in normal metabolizers No recommendation

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Normal Metabolizer

 The guideline does not provide a description of the impact of a normal metabolizer phenotype on azathioprine. The guideline does not provide a recommendation for azathioprine in normal metabolizers. No recommendation

FDA Label Annotation 1

Genotypes
NUDT15:*1/*1;
TPMT:*1/*1
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association 1

Genotypes
NUDT15:*1/*1;
TPMT:*1/*1
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

brivaracetam

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

FDA Label Annotation 1

Genotype
CYP2C19:*1/*2
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association [Pharmacogenetic Associations for which the Data Support Therapeutic Management Recommendations]

Affected subgroup: CYP2C19 intermediate or poor metabolizers

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

 "Results in higher systemic concentrations and higher adverse reaction risk. Consider dosage reductions in poor metabolizers." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

capecitabine

Some position data used to define DPYD alleles is missing which may change the matched genotype. See DPYD in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • DPYD:c.1601G>A (*4);
    DPYD:c.1627A>G (*5)
Phenotype

Normal Metabolizer

Activity Score

2.0

 DPYD: Normal DPD activity and "normal" risk for fluoropyrimidine toxicity Based on genotype, there is no indication to change dose or therapy. Use label-recommended dosage and administration. Strong

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
  • DPYD:c.1601G>A (*4);
    DPYD:c.1627A>G (*5)
Phenotype

Normal Metabolizer

Activity Score

2.0

 The guideline does not provide a description of the impact of a DPYD activity score of 2 on capecitabine. The guideline does not provide a recommendation for capecitabine in patients with a DPYD activity score of 2. No recommendation

FDA Label Annotation 1

Genotype
DPYD:c.1601G>A (*4);
DPYD:c.1627A>G (*5)
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association 1

Genotype
DPYD:c.1601G>A (*4);
DPYD:c.1627A>G (*5)
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

carbamazepine

Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
CBZ naive

No Action
Genotype
Phenotypes
HLA-A:
*31:01 negative
HLA-B:
*15:02 negative
  • HLA-A: Normal risk of carbamazepine-induced SJS/TEN, DRESS, and MPE
  • HLA-B: Normal risk of carbamazepine-induced SJS/TEN
 Use carbamazepine per standard dosing guidelines.

Other Considerations

HLA-B*15:02 has a 100% negative predictive value for carbamazepine-induced SJS/TEN, and its use is currently recommended to guide use of carbamazepine and oxcarbazepine only. Because there is a much weaker association and less than 100% negative predictive value of HLA-B*15:02 for SJS/TEN associated with other aromatic anticonvulsants, using these drugs instead of carbamazepine or oxcarbazepine in the setting of a negative HLA-B*15:02 test in Southeast Asians will not result in prevention of anticonvulsant-associated SJS/TEN (PMID 25355835). 		Strong

CPIC Guideline Annotation

Population:
CBZ use >3mos

No Action
Genotype
Phenotypes
HLA-A:
*31:01 negative
HLA-B:
*15:02 negative
  • HLA-A: Normal risk of carbamazepine-induced SJS/TEN, DRESS, and MPE
  • HLA-B: Normal risk of carbamazepine-induced SJS/TEN
 Use carbamazepine per standard dosing guidelines.

Other Considerations

HLA-B*15:02 has a 100% negative predictive value for carbamazepine-induced SJS/TEN, and its use is currently recommended to guide use of carbamazepine and oxcarbazepine only. Because there is a much weaker association and less than 100% negative predictive value of HLA-B*15:02 for SJS/TEN associated with other aromatic anticonvulsants, using these drugs instead of carbamazepine or oxcarbazepine in the setting of a negative HLA-B*15:02 test in Southeast Asians will not result in prevention of anticonvulsant-associated SJS/TEN (PMID 25355835). 		Strong

CPIC Guideline Annotation

Population:
CBZ-no alternatives

No Action
Genotype
Phenotypes
HLA-A:
*31:01 negative
HLA-B:
*15:02 negative
  • HLA-A: Normal risk of carbamazepine-induced SJS/TEN, DRESS, and MPE
  • HLA-B: Normal risk of carbamazepine-induced SJS/TEN
 Use carbamazepine per standard dosing guidelines.

Other Considerations

HLA-B*15:02 has a 100% negative predictive value for carbamazepine-induced SJS/TEN, and its use is currently recommended to guide use of carbamazepine and oxcarbazepine only. Because there is a much weaker association and less than 100% negative predictive value of HLA-B*15:02 for SJS/TEN associated with other aromatic anticonvulsants, using these drugs instead of carbamazepine or oxcarbazepine in the setting of a negative HLA-B*15:02 test in Southeast Asians will not result in prevention of anticonvulsant-associated SJS/TEN (PMID 25355835). 		Strong

DPWG Guideline Annotation 1, 2

Genotypes
HLA-A:*01:01/*11:01;
HLA-B:*08:01/*56:01
 
DPWG Guideline Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA Label Annotation 1, 2

Genotypes
HLA-A:*01:01/*11:01;
HLA-B:*08:01/*56:01
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association 1, 2

Genotypes
HLA-A:*01:01/*11:01;
HLA-B:*08:01/*56:01
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

celecoxib

Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 CYP2C9: Mildly reduced metabolism Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals.

Other Considerations

IMs might have a higher than normal risk of adverse events especially in individuals with other factors affecting clearance of these drugs such as hepatic impairment or advanced age. Further caution should be taken with ibuprofen use in individuals carrying the CYP2C9*2 allele as it is in linkage disequilibrium with CYP2C8*3 and ibuprofen is also metabolized by CYP2C8. 		Moderate

FDA Label Annotation 1

Genotype
CYP2C9:*1/*2
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association 1

Genotype
CYP2C9:*1/*2
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

citalopram

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

 CYP2C19: Reduced metabolism when compared to CYP2C19 normal metabolizers. Higher plasma concentrations may increase the probability of side effects. Initiate therapy with recommended starting dose. Consider a slower titration schedule and lower maintenance dose than normal metabolizers.

Other Considerations

Drug-drug interactions and other patient characteristics (e.g., age, renal function, liver function) should be considered when adjusting dose. 		Moderate

DPWG Guideline Annotation

Population:
Unspecified

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

 The risk of QT prolongation and torsades de pointes is theoretically increased because the gene variation leads to an increased citalopram plasma concentration. If you follow the dose recommendation below, the increased plasma concentration and the theoretically increased risk of QT prolongation will be offset. Do not exceed the following daily doses:
  1. Adults up to 65 years: 30mg as tablets or 22mg as drops,
  2. Adults 65 years or older: 15mg as tablets or 10mg as drops
 Unspecified

FDA Label Annotation 1

Genotype
CYP2C19:*1/*2
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association 1

Genotype
CYP2C19:*1/*2
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

clobazam

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

FDA Label Annotation 1

Genotype
CYP2C19:*1/*2
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association [Pharmacogenetic Associations for which the Data Support Therapeutic Management Recommendations]

Affected subgroup: CYP2C9 intermediate or poor metabolizers

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

 "Results in higher systemic active metabolite concentrations. Poor metabolism results in higher adverse reaction risk. Dosage adjustment is recommended. Refer to FDA labeling for specific dosing recommendations." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

clomipramine

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • CYP2C19:*1/*2;
    CYP2D6:Not called - no variant data provided
Phenotypes
CYP2C19:
Intermediate Metabolizer
CYP2D6:
No Result
Activity Scores
CYP2C19:
N/A
CYP2D6:
No Result
  • CYP2C19: Reduced metabolism of tertiary amines compared to normal metabolizers
  • CYP2D6: n/a
 Initiate therapy with recommended starting dose.

Other Considerations

Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. 		Optional

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Intermediate Metabolizer

 The gene variation does increase clomipramine plasma concentrations, but not clomipramine+desmethylclomipramine plasma concentrations, which determines side effects and efficacy in depression. The increase in the plasma concentration of clomipramine is favourable for the efficacy in anxiety and obsessive compulsive disorder. NO action is required for this gene-drug interaction. Unspecified

Citations:

clopidogrel

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
CVI ACS PCI

Alternate Drug
Genotype
Phenotype

Intermediate Metabolizer

 CYP2C19: Reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events Avoid standard dose (75 mg) clopidogrel if possible. Use prasugrel or ticagrelor at standard dose if no contraindication.

Other Considerations

For cardiovascular indications of acute coronary syndrome (ACS) and/or percutaneous coronary intervention (PCI). ACS and/or PCI includes patients undergoing PCI for an ACS or non-ACS (elective) indication. 		Strong

CPIC Guideline Annotation

Population:
CVI non-ACS non-PCI

No Action
Genotype
Phenotype

Intermediate Metabolizer

 CYP2C19: Reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events No recommendation

Other Considerations

For non-acute coronary syndrome (non-ACS) and non-percutaneous coronary intervention (non-PCI) cardiovascular indications. Non-ACS, non-PCI cardiovascular indications include peripheral arterial disease and stable coronary artery disease following a recent myocardial infarction outside the setting of PCI. 		No recommendation

CPIC Guideline Annotation

Population:
NVI

Alternate Drug
Genotype
Phenotype

Intermediate Metabolizer

 CYP2C19: Reduced clopidogrel active metabolite formation; increased on-treatment platelet reactivity; increased risk for adverse cardiac and cerebrovascular events Consider an alternative P2Y12 inhibitor at standard dose if clinically indicated and no contraindication.

Other Considerations

For neurovascular indications. Neurovascular disease includes acute ischemic stroke or transient ischemic attack, secondary prevention of stroke, or prevention of thromboembolic events following neurointerventional procedures such as carotid artery stenting and stent-assisted coiling of intracranial aneurysms. Alternative P2Y12 inhibitors not impacted by CYP2C19 genetic variants include ticagrelor and ticlopidine. Prasugrel is contraindicated in patients with a history of stroke or TIA. Given limited outcomes data for genotype-guided anti-platelet therapy for neurovascular indications, selection of therapy should depend on individual patient treatment goals and risks for adverse events. 		Moderate

DPWG Guideline Annotation

Population:
Unspecified

Alternate Drug
Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

 The risk of serious cardiovascular and cerebrovascular events is increased in patients undergoing balloon angioplasty or stent placement (percutaneous coronary intervention) and in patients with a stroke or TIA, as the genetic variation reduces the activation of clopidogrel. No negative clinical consequences have been observed in other patients. PERCUTANEOUS CORONARY INTERVENTION, STROKE or TIA: choose an alternative or double the dose to 150 mg/day (600 mg loading dose). Prasugrel, ticagrelor and acetylsalicylic acid/dipyridamole are not metabolised by CYP2C19 (or to a lesser extent). OTHER INDICATIONS: no action required Unspecified

FDA Label Annotation 1

Genotype
CYP2C19:*1/*2
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association [Pharmacogenetic Associations for which the Data Support Therapeutic Management Recommendations]

Affected subgroup: CYP2C19 intermediate or poor metabolizers

Alternate Drug
Genotype
Phenotype

Intermediate Metabolizer

 "Results in lower systemic active metabolite concentrations, lower antiplatelet response, and may result in higher cardiovascular risk. Consider use of another platelet P2Y12 inhibitor." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

dapsone

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Some position data used to define G6PD alleles is missing which may change the matched genotype. See G6PD in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • G6PD:B (reference)/B (reference)
Phenotype

Normal

 G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status Strong

FDA Label Annotation 1

Genotype
G6PD:B (reference)/B (reference)
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

desflurane

Some position data used to define RYR1 alleles is missing which may change the matched genotype. See RYR1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Other Guidance
Genotype
  • CACNA1S:Not called - no variant data provided;
    RYR1:Reference/Reference
Phenotypes
CACNA1S:
No Result
RYR1:
Uncertain Susceptibility
 RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

FDA Label Annotation

Population:
Unspecified

Alternate Drug
Genotype
  • CACNA1S:Not called - no variant data provided;
    RYR1:Reference/Reference
Phenotypes
CACNA1S:
No Result
RYR1:
Uncertain Susceptibility
 "The use of SUPRANE [desflurane] is contraindicated in...[cases of k]nown or suspected genetic susceptibility to malignant hyperthermia...SUPRANE [desflurane] can induce malignant hyperthermia in patients with known or suspected susceptibility based on genetic factors or family history, including those with certain inherited ryanodine receptor (RYR1) or dihydropyridine receptor (CACNA1S) variants. " See label for more information. * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

dexlansoprazole

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

 CYP2C19: Increased plasma concentration of PPI compared to CYP2C19 NMs; increased chance of efficacy and potentially toxicity Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy. Optional

FDA PGx Association [Pharmacogenetic Associations for which the Data Demonstrate a Potential Impact on Pharmacokinetic Properties Only]

Affected subgroup: CYP2C19 intermediate or poor metabolizer

No Action
Genotype
Phenotype

Intermediate Metabolizer

 "Results in higher systemic concentrations." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

doxepin

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • CYP2C19:*1/*2;
    CYP2D6:Not called - no variant data provided
Phenotypes
CYP2C19:
Intermediate Metabolizer
CYP2D6:
No Result
Activity Scores
CYP2C19:
N/A
CYP2D6:
No Result
  • CYP2C19: Reduced metabolism of tertiary amines compared to normal metabolizers
  • CYP2D6: n/a
 Initiate therapy with recommended starting dose.

Other Considerations

Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. 		Optional

FDA PGx Association [Pharmacogenetic Associations for which the Data Demonstrate a Potential Impact on Pharmacokinetic Properties Only]

Affected subgroup: CYP2C19 intermediate or poor metabolizers

No Action
Genotype
Phenotype

Intermediate Metabolizer

 "Results in higher systemic concentrations." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

dronabinol

Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Source Genes Implications Recommendation Classification

FDA Label Annotation

Population:
Unspecified

Other Guidance
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 "Monitoring for increased adverse reactions is recommended in patients known to carry genetic variants associated with diminished CYP2C9 function." See label for more information. * Unspecified

FDA PGx Association [Pharmacogenetic Associations for which the Data Support Therapeutic Management Recommendations]

Affected subgroup: CYP2C9 intermediate or poor metabolizers

Other Guidance
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 "May result in higher systemic concentrations and higher adverse reaction risk. Monitor for adverse reactions." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

efavirenz

Some position data used to define CYP2B6 alleles is missing which may change the matched genotype. See CYP2B6 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
child >40kg_adult

No Action
Genotype
Phenotype

Normal Metabolizer

 CYP2B6: Normal efavirenz metabolism Initiate efavirenz with standard dosing (600 mg/day)

Other Considerations

The ENCORE study showed that in treatment-naïve patients randomized to initiate efavirenz-based regimens (combined with tenofovir and emtricitabine), 400 mg/day was non-inferior to 600 mg/day regardless of CYP2B6 genotype (PMID 24522178). 		Strong

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Normal Metabolizer

 The guideline does not provide a description of the impact of a normal metabolizer phenotype on efavirenz. The guideline does not provide a recommendation for efavirenz in normal metabolizers. No recommendation

FDA PGx Association 1

Genotype
CYP2B6:*1/*1
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

enflurane

Some position data used to define RYR1 alleles is missing which may change the matched genotype. See RYR1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Other Guidance
Genotype
  • CACNA1S:Not called - no variant data provided;
    RYR1:Reference/Reference
Phenotypes
CACNA1S:
No Result
RYR1:
Uncertain Susceptibility
 RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

Citations:

escitalopram

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

 CYP2C19: Reduced metabolism when compared to CYP2C19 normal metabolizers. Higher plasma concentrations may increase the probability of side effects. Initiate therapy with recommended starting dose. Consider a slower titration schedule and lower maintenance dose than normal metabolizers.

Other Considerations

Drug-drug interactions and other patient characteristics (e.g., age, renal function, liver function) should be considered when adjusting dose. 		Moderate

DPWG Guideline Annotation

Population:
Unspecified

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

 The risk of QT prolongation and torsades de pointes is theoretically increased because the gene variation leads to an increased escitalopram plasma concentration. If you follow the dose recommendation below, the increased plasma concentration and the theoretically increased risk of QT prolongation will be offset. Do not exceed the following doses (75% of the standard maximum dose): adults < 65 years 15 mg/day, =65 years 7.5 mg/day Unspecified

FDA PGx Association [Pharmacogenetic Associations for which the Data Demonstrate a Potential Impact on Pharmacokinetic Properties Only]

Affected subgroup: CYP2C19 ultrarapid, intermediate, or poor metabolizers

No Action
Genotype
Phenotype

Intermediate Metabolizer

 "May alter systemic concentrations." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

flucytosine

Some position data used to define DPYD alleles is missing which may change the matched genotype. See DPYD in Section III for for more information.
Source Genes Implications Recommendation Classification

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
  • DPYD:c.1601G>A (*4);
    DPYD:c.1627A>G (*5)
Phenotype

Normal Metabolizer

Activity Score

2.0

 The guideline does not provide a description of the impact of a DPYD activity score of 2 on flucytosine. The guideline does not provide a recommendation for flucytosine in patients with a DPYD activity score of 2. No recommendation

fluorouracil

Some position data used to define DPYD alleles is missing which may change the matched genotype. See DPYD in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • DPYD:c.1601G>A (*4);
    DPYD:c.1627A>G (*5)
Phenotype

Normal Metabolizer

Activity Score

2.0

 DPYD: Normal DPD activity and "normal" risk for fluoropyrimidine toxicity Based on genotype, there is no indication to change dose or therapy. Use label-recommended dosage and administration. Strong

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
  • DPYD:c.1601G>A (*4);
    DPYD:c.1627A>G (*5)
Phenotype

Normal Metabolizer

Activity Score

2.0

 The guideline does not provide a description of the impact of a DPYD activity score of 2 on fluorouracil. The guideline does not provide a recommendation for fluorouracil in patients with a DPYD activity score of 2. No recommendation

FDA Label Annotation 1

Genotype
DPYD:c.1601G>A (*4);
DPYD:c.1627A>G (*5)
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association 1

Genotype
DPYD:c.1601G>A (*4);
DPYD:c.1627A>G (*5)
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

flurbiprofen

Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 CYP2C9: Mildly reduced metabolism Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals.

Other Considerations

IMs might have a higher than normal risk of adverse events especially in individuals with other factors affecting clearance of these drugs such as hepatic impairment or advanced age. Further caution should be taken with ibuprofen use in individuals carrying the CYP2C9*2 allele as it is in linkage disequilibrium with CYP2C8*3 and ibuprofen is also metabolized by CYP2C8. 		Moderate

FDA Label Annotation 1

Genotype
CYP2C9:*1/*2
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association 1

Genotype
CYP2C9:*1/*2
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

fluvastatin

The assigned genotype is *1/*15; however, *5/*37 cannot be ruled out without phased data.
The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Some position data used to define SLCO1B1 alleles is missing which may change the matched genotype. See SLCO1B1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Alternate Drug
Dosing Info
Genotype
Phenotypes
CYP2C9:
Intermediate Metabolizer
SLCO1B1:
Decreased Function
Activity Scores
CYP2C9:
1.5
SLCO1B1:
N/A
  • CYP2C9: Increased fluvastatin exposure as compared to normal metabolizer which may translate to increased myopathy risk.
  • SLCO1B1: Increased fluvastatin exposure as compared to normal function; Typical myopathy risk with ≤40 mg.
 Prescribe ≤20mg per day as a starting dose and adjust doses of fluvastatin based on disease-specific guidelines. If dose >20mg needed for desired efficacy, consider an alternative statin or combination therapy (i.e., fluvastatin plus non-statin guideline directed medical therapy) (PMID: 30423391).

Other Considerations

The potential for drug-drug interactions and dose limits based on renal and hepatic function should be evaluated prior to initiating a statin. The effects of drug-drug interactions may be more pronounced resulting in a higher risk of myopathy. 		Optional

Citations:

fosphenytoin

The displayed recommendation for CYP2C9 and phenytoin is ONLY valid for non-carriers of the HLA-B*15:02 high-risk allele. PharmCAT Named Allele Matcher does not determine HLA status. CPIC guidance: Fos-/Phenytoin is contraindicated in individuals with the HLA-B*15:02 variant allele ("HLA-B*15:02-positive") due to significantly increased risk of fos-/phenytoin-induced cutaneous adverse reactions of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). In HLA-B*15:02 carriers, carbamazepine should not be used as an alternative. Alternative medications such as oxcarbazepine, eslicarbazepine acetate, and lamotrigine have some evidence linking SJS/TEN with the HLA-B*15:02 allele, and thus caution should be used in choosing alternatives to phenytoin.
Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
PHT naive

No Action
Genotype
Phenotypes
CYP2C9:
Intermediate Metabolizer
HLA-B:
*15:02 negative
Activity Scores
CYP2C9:
1.5
HLA-B:
N/A
  • CYP2C9: Slightly reduced phenytoin metabolism; however, this does not appear to translate into increased side effects.
  • HLA-B: n/a
 No adjustments needed from typical dosing strategies. Subsequent doses should be adjusted according to therapeutic drug monitoring, response and side effects. An HLA-B*15:02 negative test does not eliminate the risk of phenytoin-induced SJS/TEN and patients should be carefully monitored according to a usual standard. Moderate

CPIC Guideline Annotation

Population:
PHT use >3mos

No Action
Genotype
Phenotypes
CYP2C9:
Intermediate Metabolizer
HLA-B:
*15:02 negative
Activity Scores
CYP2C9:
1.5
HLA-B:
N/A
  • CYP2C9: Slightly reduced phenytoin metabolism; however, this does not appear to translate into increased side effects.
  • HLA-B: n/a
 No adjustments needed from typical dosing strategies. Subsequent doses should be adjusted according to therapeutic drug monitoring, response and side effects. An HLA-B*15:02 negative test does not eliminate the risk of phenytoin-induced SJS/TEN and patients should be carefully monitored according to a usual standard. Moderate

FDA Label Annotation

Population:
Unspecified

Dosing Info
Genotype
Phenotypes
CYP2C9:
Intermediate Metabolizer
HLA-B:
*15:02 negative
Activity Scores
CYP2C9:
1.5
HLA-B:
N/A
 "[P]atients who are known to be intermediate or poor metabolizers may ultimately require lower doses to maintain similar steady-state concentrations compared to normal metabolizers. In patients who are known to be carriers of the decreased function CYP2C9*2 or *3 alleles (intermediate and poor metabolizers), consider starting at the low end of the dosage range and monitor serum concentrations to maintain total phenytoin concentrations of 10 to 20 mcg/mL." See label for more information. * Unspecified

FDA PGx Association [Pharmacogenetic Associations for which the Data Support Therapeutic Management Recommendations]

CYP2C9 intermediate or poor metabolizers

Alternate Drug
Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 "May result in higher systemic concentrations and higher adverse reaction risk (central nervous system toxicity). Consider starting at the lower end of the dosage range and monitor serum concentrations. Refer to FDA labeling for specific dosing recommendations. Carriers of CYP2C9*3 alleles may be at increased risk of severe cutaneous adverse reactions. Consider avoiding fosphenytoin as an alternative to carbamazepine in patients who are CYP2C9*3 carriers. Genotyping is not a substitute for clinical vigilance and patient management." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

halothane

Some position data used to define RYR1 alleles is missing which may change the matched genotype. See RYR1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Other Guidance
Genotype
  • CACNA1S:Not called - no variant data provided;
    RYR1:Reference/Reference
Phenotypes
CACNA1S:
No Result
RYR1:
Uncertain Susceptibility
 RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

Citations:

hydralazine

Some position data used to define NAT2 alleles is missing which may change the matched genotype. See NAT2 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

 Predicted to have reduced plasma concentrations and efficacy of hydralazine compared to NAT2 poor metabolizers. Consider a starting total daily dose of at least 75 mg. Titrate up to 300 mg total daily hydralazine dose as tolerated. NAT2 intermediate metabolizers typically require a 50-100% higher maintenance dose compared to poor metabolizers. Moderate

FDA Label Annotation 1

Genotype
NAT2:*4/*5
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association 1

Genotype
NAT2:*4/*5
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

ibuprofen

Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 CYP2C9: Mildly reduced metabolism Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals.

Other Considerations

IMs might have a higher than normal risk of adverse events especially in individuals with other factors affecting clearance of these drugs such as hepatic impairment or advanced age. Further caution should be taken with ibuprofen use in individuals carrying the CYP2C9*2 allele as it is in linkage disequilibrium with CYP2C8*3 and ibuprofen is also metabolized by CYP2C8. 		Moderate

FDA PGx Association 1

Genotype
CYP2C9:*1/*2
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

imipramine

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • CYP2C19:*1/*2;
    CYP2D6:Not called - no variant data provided
Phenotypes
CYP2C19:
Intermediate Metabolizer
CYP2D6:
No Result
Activity Scores
CYP2C19:
N/A
CYP2D6:
No Result
  • CYP2C19: Reduced metabolism of tertiary amines compared to normal metabolizers
  • CYP2D6: n/a
 Initiate therapy with recommended starting dose.

Other Considerations

Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. 		Optional

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Intermediate Metabolizer

 The genetic variation increases imipramine plasma concentrations, but not imipramine+desipramine plasma concentrations, which govern effectiveness and side effects. NO action is required for this gene-drug interaction. Unspecified

Citations:

irinotecan

Source Genes Implications Recommendation Classification

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Intermediate Metabolizer

 This genetic variation (*1/*28) is more common in Western populations than the wild-type (*1/*1). This means that treatment is largely geared to patients with this genetic variation. Adjustment of the treatment is therefore not useful. Note that DPWG considers the *36 allele to be clinically equivalent to the *1 allele. NO action is needed for this gene-drug interaction. Unspecified

FDA Label Annotation

Population:
Unspecified

Other Guidance
Genotype
Phenotype

Intermediate Metabolizer

 The CAMPTOSAR [irinotecan] label states "Individuals who are heterozygous for either the UGT1A1*28 or *6 alleles (*1/*6, *1/*28) are UGT1A1 intermediate metabolizers and may also have an increased risk of severe or life-threatening neutropenia. Published studies have shown that individuals with UGT1A1*28 and *6 alleles may be at an increased risk of severe diarrhea." "Closely monitor patients with UGT1A1*28 or *6 alleles for neutropenia during and after treatment with CAMPTOSAR." See label for more information. * Unspecified

FDA PGx Association [Pharmacogenetic Associations for which the Data Support Therapeutic Management Recommendations]

Affected subgroup: UGT1A1*1/*6, *1/*28 (intermediate metabolizers) or *6/*6, *6/*28, *28/*28 (poor metabolizers)

Dosing Info
Other Guidance
Genotype
Phenotype

Intermediate Metabolizer

 "Results in higher systemic active metabolite concentrations and higher adverse reaction risk (severe or life-threatening neutropenia, severe diarrhea). Closely monitor for neutropenia during and after treatment. Consider reducing the starting dosage by at least one level in poor metabolizers and modify the dosage based on individual patient tolerance. Refer to FDA labeling for specific dosing recommendations." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

isoflurane

Some position data used to define RYR1 alleles is missing which may change the matched genotype. See RYR1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Other Guidance
Genotype
  • CACNA1S:Not called - no variant data provided;
    RYR1:Reference/Reference
Phenotypes
CACNA1S:
No Result
RYR1:
Uncertain Susceptibility
 RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

FDA Label Annotation

Population:
Unspecified

Alternate Drug
Genotype
  • CACNA1S:Not called - no variant data provided;
    RYR1:Reference/Reference
Phenotypes
CACNA1S:
No Result
RYR1:
Uncertain Susceptibility
 "CONTRAINDICATIONS...with known or suspected genetic susceptibility to malignant hyperthermia...FORANE [isoflurane] can induce malignant hyperthermia in patients with known or suspected susceptibility based on genetic factors or family history, including those with certain inherited ryanodine receptor (RYR1) or dihydropyridine receptor (CACNA1S) variants." See label for more information. * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

ivacaftor

Some position data used to define CFTR alleles is missing which may change the matched genotype. See CFTR in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Alternate Drug
Genotype
  • CFTR:Reference/Reference
Phenotype

ivacaftor non-responsive in CF patients

 CFTR: An individual diagnosed with cystic fibrosis (CF) and negative for a CFTR variant listed in the FDA-approved drug label as being responsive to ivacaftor. Ivacaftor is not recommended Moderate

FDA Label Annotation 1

Genotype
CFTR:Reference/Reference
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

lamotrigine

Source Genes Implications Recommendation Classification

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

*15:02 negative

 The guideline does not provide a description of the impact of the absence of HLA-B*15:02 alleles on lamotrigine. The guideline does not provide a recommendation for lamotrigine in patients with no HLA-B*15:02 alleles or negative for the HLA-B*15:02 test. No recommendation

Citations:

lansoprazole

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

 CYP2C19: Increased plasma concentration of PPI compared to CYP2C19 NMs; increased chance of efficacy and potentially toxicity Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy. Optional

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Intermediate Metabolizer

 The higher plasma concentration of lansoprazole results in an increase in the therapeutic effectiveness, without an increase in the incidence of side effects. NO action is needed for this gene-drug interaction. Unspecified

FDA PGx Association 1

Genotype
CYP2C19:*1/*2
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

lornoxicam

Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 CYP2C9: Mildly reduced metabolism Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals.

Other Considerations

IMs might have a higher than normal risk of adverse events especially in individuals with other factors affecting clearance of these drugs such as hepatic impairment or advanced age. Further caution should be taken with ibuprofen use in individuals carrying the CYP2C9*2 allele as it is in linkage disequilibrium with CYP2C8*3 and ibuprofen is also metabolized by CYP2C8. 		Moderate

Citations:

lovastatin

The assigned genotype is *1/*15; however, *5/*37 cannot be ruled out without phased data.
The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Some position data used to define SLCO1B1 alleles is missing which may change the matched genotype. See SLCO1B1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Alternate Drug
Dosing Info
Genotype
Phenotype

Decreased Function

 SLCO1B1: Increased lovastatin acid exposure as compared to normal function which may translate to increased myopathy risk Prescribe an alternative statin depending on the desired potency (see Figure 1 of PMID: 35152405 for recommendations for alternative statins). If lovastatin therapy is warranted, limit dose to ≤20mg/day.

Other Considerations

The potential for drug-drug interactions and dose limits based on renal and hepatic function should be evaluated prior to initiating a statin. The effects of drug-drug interactions may be more pronounced resulting in a higher risk of myopathy. 		Moderate

Citations:

mavacamten

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Intermediate Metabolizer

 Although the plasma concentration of mavacamten may increase due to the reduced CYP2C19 activity, this does not appear to lead to an increase in side effects. NO action is required for this gene-drug interaction. Unspecified

FDA PGx Association [Pharmacogenetic Associations for which the Data Indicate a Potential Impact on Safety or Response]

Affected subgroup: CYP2C9 intermediate or poor metabolizers

Other Guidance
Genotype
Phenotype

Intermediate Metabolizer

 "Results in higher systemic concentrations and may have higher adverse reaction risk (heart failure). Dosage is based on individual response. The dose titration and monitoring schedule accounts for differences due to CYP2C19 genetic variation, so adjustments based on CYP2C19 genotype are not necessary. Refer to FDA labeling for specific dosing recommendations and monitoring." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

meloxicam

Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 CYP2C9: Mildly reduced metabolism Initiate therapy with recommended starting dose. In accordance with the meloxicam prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals.

Other Considerations

IMs might have a higher than normal risk of adverse events especially in individuals with other factors affecting clearance of these drugs such as hepatic impairment or advanced age. 		Moderate

FDA PGx Association 1

Genotype
CYP2C9:*1/*2
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

mercaptopurine

Some position data used to define NUDT15 alleles is missing which may change the matched genotype. See NUDT15 in Section III for for more information.
Some position data used to define TPMT alleles is missing which may change the matched genotype. See TPMT in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
Phenotypes
NUDT15:
Normal Metabolizer
TPMT:
Normal Metabolizer
  • NUDT15: Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression
  • TPMT: Lower concentrations of TGN metabolites, higher MeTIMP, this is the ‘normal’ pattern. Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression.
 Start with normal starting dose (e.g., 75 mg/m2/day or 1.5 mg/kg/day) and adjust doses of mercaptopurine (and of any other myelosuppressive therapy) without any special emphasis on mercaptopurine compared to other agents. Allow at least 2 weeks to reach steady-state after each dose adjustment (PMID 20354201, 16401827, 11302950).

Other Considerations

Normal starting doses vary by race/ethnicity and treatment regimens. If standard dose is below normal recommended dose, dose reduction might not be recommended for intermediate metabolizers. 		Strong

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Normal Metabolizer

 The guideline does not provide a description of the impact of a normal metabolizer phenotype on mercaptopurine. The guideline does not provide a recommendation for mercaptopurine in normal metabolizers No recommendation

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Normal Metabolizer

 The guideline does not provide a description of the impact of a normal metabolizer phenotype on mercaptopurine. The guideline does not provide a recommendation for mercaptopurine in normal metabolizers. No recommendation

FDA Label Annotation 1

Genotypes
NUDT15:*1/*1;
TPMT:*1/*1
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association 1

Genotypes
NUDT15:*1/*1;
TPMT:*1/*1
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

methoxyflurane

Some position data used to define RYR1 alleles is missing which may change the matched genotype. See RYR1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Other Guidance
Genotype
  • CACNA1S:Not called - no variant data provided;
    RYR1:Reference/Reference
Phenotypes
CACNA1S:
No Result
RYR1:
Uncertain Susceptibility
 RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

Citations:

methylene blue

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Some position data used to define G6PD alleles is missing which may change the matched genotype. See G6PD in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • G6PD:B (reference)/B (reference)
Phenotype

Normal

 G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status Strong

FDA Label Annotation 1

Genotype
G6PD:B (reference)/B (reference)
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

nitrofurantoin

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Some position data used to define G6PD alleles is missing which may change the matched genotype. See G6PD in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • G6PD:B (reference)/B (reference)
Phenotype

Normal

 G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status Strong

FDA Label Annotation 1

Genotype
G6PD:B (reference)/B (reference)
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

omeprazole

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

 CYP2C19: Increased plasma concentration of PPI compared to CYP2C19 NMs; increased chance of efficacy and potentially toxicity Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy. Optional

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Intermediate Metabolizer

 The higher plasma concentration of omeprazole results in an increase in the therapeutic effectiveness, without an increase in the side effects. NO action is required for this gene-drug interaction. Unspecified

FDA PGx Association [Pharmacogenetic Associations for which the Data Demonstrate a Potential Impact on Pharmacokinetic Properties Only]

Affected subgroup: CYP2C19 intermediate or poor metabolizers

No Action
Genotype
Phenotype

Intermediate Metabolizer

 "Results in higher systemic concentrations." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

oxcarbazepine

Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
OXC naive

No Action
Genotype
Phenotype

*15:02 negative

 HLA-B: Normal risk of oxcarbazepine-induced SJS/TEN Use oxcarbazepine per standard dosing guidelines. Strong

CPIC Guideline Annotation

Population:
OXC use >3 mos

No Action
Genotype
Phenotype

*15:02 negative

 HLA-B: Normal risk of oxcarbazepine-induced SJS/TEN Use oxcarbazepine per standard dosing guidelines. Strong

DPWG Guideline Annotation 1

Genotype
HLA-B:*08:01/*56:01
 
DPWG Guideline Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA Label Annotation 1

Genotype
HLA-B:*08:01/*56:01
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association 1

Genotype
HLA-B:*08:01/*56:01
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

pantoprazole

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

 CYP2C19: Increased plasma concentration of PPI compared to CYP2C19 NMs; increased chance of efficacy and potentially toxicity Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy. Optional

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Intermediate Metabolizer

 The higher plasma concentration of pantoprazole results in an increase in the therapeutic effectiveness, without an increase in the side effects. NO action is required for this gene-drug interaction. Unspecified

FDA Label Annotation 1

Genotype
CYP2C19:*1/*2
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association [Pharmacogenetic Associations for which the Data Support Therapeutic Management Recommendations]

Pediatrics; Affected subgroup: CYP2C19 intermediate or poor metabolizers

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

 "Results in higher systemic concentrations. Consider dosage reduction in children who are poor metabolizers. No dosage adjustment is needed for adult patients who are intermediate or poor metabolizers." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

pegloticase

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Some position data used to define G6PD alleles is missing which may change the matched genotype. See G6PD in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • G6PD:B (reference)/B (reference)
Phenotype

Normal

 G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status Strong

FDA Label Annotation 1

Genotype
G6PD:B (reference)/B (reference)
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

phenprocoumon

Source Genes Implications Recommendation Classification

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
  • VKORC1:rs9923231 reference (C)/
     rs9923231 variant (T)
Phenotype

-1639 AG

 The gene variation leads to a lower dose requirement, but regular monitoring of patients ensures that this does not lead to a distinct increase in the risk of bleeding. NO action is needed for this gene-drug interaction. Unspecified

Citations:

phenytoin

The displayed recommendation for CYP2C9 and phenytoin is ONLY valid for non-carriers of the HLA-B*15:02 high-risk allele. PharmCAT Named Allele Matcher does not determine HLA status. CPIC guidance: Fos-/Phenytoin is contraindicated in individuals with the HLA-B*15:02 variant allele ("HLA-B*15:02-positive") due to significantly increased risk of fos-/phenytoin-induced cutaneous adverse reactions of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). In HLA-B*15:02 carriers, carbamazepine should not be used as an alternative. Alternative medications such as oxcarbazepine, eslicarbazepine acetate, and lamotrigine have some evidence linking SJS/TEN with the HLA-B*15:02 allele, and thus caution should be used in choosing alternatives to phenytoin.
Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
PHT naive

No Action
Genotype
Phenotypes
CYP2C9:
Intermediate Metabolizer
HLA-B:
*15:02 negative
Activity Scores
CYP2C9:
1.5
HLA-B:
N/A
  • CYP2C9: Slightly reduced phenytoin metabolism; however, this does not appear to translate into increased side effects.
  • HLA-B: n/a
 No adjustments needed from typical dosing strategies. Subsequent doses should be adjusted according to therapeutic drug monitoring, response and side effects. An HLA-B*15:02 negative test does not eliminate the risk of phenytoin-induced SJS/TEN and patients should be carefully monitored according to a usual standard. Moderate

CPIC Guideline Annotation

Population:
PHT use >3mos

No Action
Genotype
Phenotypes
CYP2C9:
Intermediate Metabolizer
HLA-B:
*15:02 negative
Activity Scores
CYP2C9:
1.5
HLA-B:
N/A
  • CYP2C9: Slightly reduced phenytoin metabolism; however, this does not appear to translate into increased side effects.
  • HLA-B: n/a
 No adjustments needed from typical dosing strategies. Subsequent doses should be adjusted according to therapeutic drug monitoring, response and side effects. An HLA-B*15:02 negative test does not eliminate the risk of phenytoin-induced SJS/TEN and patients should be carefully monitored according to a usual standard. Moderate

DPWG Guideline Annotation

Population:
Unspecified

Dosing Info
Other Guidance
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 There are indications of an increased risk of side effects. The gene variation increases the plasma concentration of phenytoin.
  • The loading dose does not need to be adjusted.
  • For the other doses, use 75% of the standard dose and assess the dose based on effect and serum concentration after 7–10 days.
  • Advise the patient to report side effects (such as ataxia, nystagmus, slurred speech, sedation or rash).
 Unspecified

FDA Label Annotation

Population:
Unspecified

Dosing Info
Genotype
Phenotypes
CYP2C9:
Intermediate Metabolizer
HLA-B:
*15:02 negative
Activity Scores
CYP2C9:
1.5
HLA-B:
N/A
 "Patients who are intermediate or poor metabolizers of CYP2C9 substrates (e.g., *1/*3, *2/*2, *3/*3) may exhibit increased phenytoin serum concentrations compared to patients who are normal metabolizers (e.g., *1/*1). Thus, patients who are known to be intermediate or poor metabolizers may ultimately require lower doses of phenytoin to maintain similar steady-state concentrations compared to normal metabolizers." See label for more information. * Unspecified

FDA PGx Association [Pharmacogenetic Associations for which the Data Support Therapeutic Management Recommendations]

CYP2C9 intermediate or poor metabolizers

Alternate Drug
Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 "May result in higher systemic concentrations and higher adverse reaction risk (central nervous system toxicity). Refer to FDA labeling for specific dosing recommendations. Carriers of CYP2C9*3 alleles may be at increased risk of severe cutaneous adverse reactions. Consider avoiding phenytoin as an alternative to carbamazepine in patients who are CYP2C9*3 carriers. Genotyping is not a substitute for clinical vigilance and patient management." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

piroxicam

Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 CYP2C9: Mildly reduced metabolism Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals.

Other Considerations

IMs might have a higher than normal risk of adverse events especially in individuals with other factors affecting clearance of these drugs such as hepatic impairment or advanced age. 		Moderate

FDA Label Annotation 1

Genotype
CYP2C9:*1/*2
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association [Pharmacogenetic Associations for which the Data Support Therapeutic Management Recommendations]

Affected subgroup: CYP2C9 intermediate or poor metabolizers

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 "Results in higher systemic concentrations. Consider reducing dosage in poor metabolizers." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

pitavastatin

The assigned genotype is *1/*15; however, *5/*37 cannot be ruled out without phased data.
The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Some position data used to define SLCO1B1 alleles is missing which may change the matched genotype. See SLCO1B1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Alternate Drug
Dosing Info
Genotype
Phenotype

Decreased Function

 SLCO1B1: Increased pitavastatin exposure as compared to normal function which may translate to increased myopathy risk Prescribe ≤ 2mg as a starting dose and adjust doses of pitavastatin based on disease-specific guidelines. Prescriber should be aware of possible increased risk for myopathy especially for doses >1mg. If dose >2mg needed for desired efficacy, consider an alternative statin (see Figure 1 of PMID: 35152405 for recommendations for alternative statins) or combination therapy (i.e. pitavastatin plus non-statin guideline directed medical therapy) (PMID: 30423391).

Other Considerations

The potential for drug-drug interactions and dose limits based on renal and hepatic function should be evaluated prior to initiating a statin. The effects of drug-drug interactions may be more pronounced resulting in a higher risk of myopathy. 		Moderate

Citations:

pravastatin

The assigned genotype is *1/*15; however, *5/*37 cannot be ruled out without phased data.
The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Some position data used to define SLCO1B1 alleles is missing which may change the matched genotype. See SLCO1B1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Other Guidance
Genotype
Phenotype

Decreased Function

 SLCO1B1: Increased pravastatin exposure as compared to normal function; Typical myopathy risk with doses ≤40 mg. Prescribe desired starting dose and adjust doses of pravastatin based on disease-specific guidelines. Prescriber should be aware of possible increased risk for myopathy with pravastatin especially with doses >40mg per day.

Other Considerations

The potential for drug-drug interactions and dose limits based on renal and hepatic function should be evaluated prior to initiating a statin. The effects of drug-drug interactions may be more pronounced resulting in a higher risk of myopathy. 		Moderate

Citations:

primaquine

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Some position data used to define G6PD alleles is missing which may change the matched genotype. See G6PD in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • G6PD:B (reference)/B (reference)
Phenotype

Normal

 G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status Strong

FDA Label Annotation 1

Genotype
G6PD:B (reference)/B (reference)
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

quetiapine

The CYP3A4 alleles are determined based on PharmVar CYP3A4 allele definitions. See PharmCAT disclaimer for further information.
Some position data used to define CYP3A4 alleles is missing which may change the matched genotype. See CYP3A4 in Section III for for more information.
Source Genes Implications Recommendation Classification

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Normal Metabolizer

 The guideline does not provide a description of the impact of a normal metabolizer phenotype on quetiapine. The guideline does not provide a recommendation for quetiapine in normal metabolizers. No recommendation

Citations:

rasburicase

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Some position data used to define G6PD alleles is missing which may change the matched genotype. See G6PD in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • G6PD:B (reference)/B (reference)
Phenotype

Normal

 G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status Strong

FDA Label Annotation 1

Genotype
G6PD:B (reference)/B (reference)
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

rosuvastatin

The assigned genotype is *1/*15; however, *5/*37 cannot be ruled out without phased data.
The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Some position data used to define SLCO1B1 alleles is missing which may change the matched genotype. See SLCO1B1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Other Guidance
Genotype
  • ABCG2:rs2231142 reference (G)/
     rs2231142 reference (G)    ;
    SLCO1B1:*1/*15
Phenotypes
ABCG2:
Normal Function
SLCO1B1:
Decreased Function
  • ABCG2: Typical myopathy risk and rosuvastatin exposure
  • SLCO1B1: Increased rosuvastatin exposure as compared to normal function; Typical myopathy risk with doses ≤20 mg.
 Prescribe desired starting dose and adjust doses of rosuvastatin based on disease-specific and specific population guidelines. Prescriber should be aware of possible increased risk for myopathy especially for doses >20mg.

Other Considerations

The potential for drug-drug interactions and dose limits based on renal and hepatic function and Asian ancestry should be evaluated prior to initiating a statin. The effects of drug-drug interactions may be more pronounced resulting in a higher risk of myopathy. 		Strong

DPWG Guideline Annotation

Population:
Unspecified

Dosing Info
Other Guidance
Genotype
Phenotype

Decreased Function

 The risk of myopathy can be elevated. The genetic variation may lead to reduced rosuvastatin transport to the liver, which may increase rosuvastatin plasma concentrations. Patient has ADDITIONAL SIGNIFICANT RISK FACTORS for statin-induced myopathy:
  1. keep the rosuvastatin dose as low as possible (e.g. by adding ezetimibe)
  2. advise the patient to report muscle symptoms
Patient has NO additional significant risk factors for statin-induced myopathy:
  1. advise the patient to report muscle symptoms
 Unspecified

FDA PGx Association 1

Genotype
SLCO1B1:*1/*15
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

sertraline

Some position data used to define CYP2B6 alleles is missing which may change the matched genotype. See CYP2B6 in Section III for for more information.
Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Dosing Info
Genotype
Phenotypes
CYP2B6:
Normal Metabolizer
CYP2C19:
Intermediate Metabolizer
  • CYP2B6: Normal metabolism of sertraline to less active compounds.
  • CYP2C19: Reduced metabolism of sertraline to less active compounds when compared to CYP2C19 normal metabolizers.
 Initiate therapy with recommended starting dose. Consider a slower titration schedule and lower maintenance dose. Moderate

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Intermediate Metabolizer

 The gene variation has a minor effect on the sertraline plasma concentration. No effect on side effects was found. NO action is needed for this gene-drug interaction. Unspecified

Citations:

sevoflurane

Some position data used to define RYR1 alleles is missing which may change the matched genotype. See RYR1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Other Guidance
Genotype
  • CACNA1S:Not called - no variant data provided;
    RYR1:Reference/Reference
Phenotypes
CACNA1S:
No Result
RYR1:
Uncertain Susceptibility
 RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

FDA Label Annotation

Population:
Unspecified

Alternate Drug
Genotype
  • CACNA1S:Not called - no variant data provided;
    RYR1:Reference/Reference
Phenotypes
CACNA1S:
No Result
RYR1:
Uncertain Susceptibility
 "CONTRAINDICATIONS: Known or suspected genetic susceptibility to malignant hyperthermia...ULTANE [sevoflurane] can induce malignant hyperthermia in patients with known or suspected susceptibility based on genetic factors or family history, including those with certain inherited ryanodine receptor (RYR1) or dihydropyridine receptor (CACNA1S) variants." See label for more information. * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

simvastatin

The assigned genotype is *1/*15; however, *5/*37 cannot be ruled out without phased data.
The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
Some position data used to define SLCO1B1 alleles is missing which may change the matched genotype. See SLCO1B1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Alternate Drug
Dosing Info
Genotype
Phenotype

Decreased Function

 SLCO1B1: Increased simvastatin acid exposure as compared to normal function; increased risk of myopathy Prescribe an alternative statin depending on the desired potency (see Figure 1 of PMID: 35152405 for recommendations for alternative statins). If simvastatin therapy is warranted, limit dose to <20mg/day.

Other Considerations

The potential for drug-drug interactions and dose limits based on renal and hepatic function should be evaluated prior to initiating a statin. The effects of drug-drug interactions may be more pronounced resulting in a higher risk of myopathy. 		Strong

DPWG Guideline Annotation

Population:
Unspecified

Alternate Drug
Dosing Info
Other Guidance
Genotype
Phenotype

Decreased Function

 When using simvastatin 80 mg/day, the risk of myopathy is increased 5-fold to 3% for moderately severe to severe myopathy and 1.3% for severe myopathy. When using 40 mg/day, this risk is increased 2.6-fold to 0.39% and 0.17% respectively. The gene variation may lead to reduced simvastatin transport to the liver, which may increase simvastatin plasma concentrations and therefore the risk of side effects.
  1. Choose an alternative. Consider any additional risk factors for statin-induced myopathy. Atorvastatin is affected less severely by the SLCO1B1 gene variation, but is also affected by CYP3A4 inhibitors such as amiodarone, verapamil and diltiazem. Use of atorvastatin is not recommended for patients with additional risk factors for statin-induced myopathy. Rosuvastatin and pravastatin are influenced to a lesser extent by the SLCO1B1 gene variation. They are also not influenced by CYP3A4 inhibitors such as amiodarone, verapamil and diltiazem. Fluvastatin is not significantly influenced by the SLCO1B1 gene variation or CYP3A4 inhibitors.
  2. If an alternative is not an option:
    1. Avoid simvastatin doses exceeding 40 mg/day (e.g. by adding ezetimibe).
    2. Advise the patient to report muscle symptoms.
 Unspecified

FDA PGx Association [Pharmacogenetic Associations for which the Data Indicate a Potential Impact on Safety or Response]

Affected subgroup: SLCO1B1 521 TC or 521 CC (intermediate or poor function transporters)

Other Guidance
Genotype
Phenotype

Decreased Function

 "Results in higher systemic concentrations and higher adverse reaction risk (myopathy). The risk of adverse reaction (myopathy) is higher for patients on 80 mg than for those on lower doses." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

siponimod

Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Source Genes Implications Recommendation Classification

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 The gene variation can slightly increase the exposure to siponimod. However, the effect is too small to expect any impact on efficacy or adverse reactions. NO action is required for this gene-drug interaction. Unspecified

FDA Label Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 The MAYZENT (siponimod) label states: "Recommended Dosage in Patients With CYP2C9 Genotypes *1/*1, *1/*2, or *2/*2" "Initiate MAYZENT with a 5-day titration, as shown in Table 1... A starter pack should be used for patients who will be titrated to the 2-mg maintenance dosage" "After treatment titration (see Treatment Initiation), the recommended maintenance dosage of MAYZENT is 2 mg taken orally once daily starting on Day 6." See label for more information. * Unspecified

FDA PGx Association [Pharmacogenetic Associations for which the Data Support Therapeutic Management Recommendations]

Affected subgroup: CYP2C9 intermediate or poor metabolizers

Dosing Info
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 "Results in higher systemic concentrations. Adjust dosage based on genotype. Do not use in patients with CYP2C9 *3/*3 genotype. Refer to FDA labeling for specific dosing recommendations." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

succinylcholine

Some position data used to define RYR1 alleles is missing which may change the matched genotype. See RYR1 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

Other Guidance
Genotype
  • CACNA1S:Not called - no variant data provided;
    RYR1:Reference/Reference
Phenotypes
CACNA1S:
No Result
RYR1:
Uncertain Susceptibility
 RYR1: These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675). No CACNA1S genotype is available. Based on RYR1 status, clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants. Strong

FDA Label Annotation

Population:
Unspecified

Alternate Drug
Other Guidance
Genotype
  • CACNA1S:Not called - no variant data provided;
    RYR1:Reference/Reference
Phenotypes
CACNA1S:
No Result
RYR1:
Uncertain Susceptibility
 "ANECTINE [succinylcholine] is contraindicated in patients with...[k]nown or suspected genetic susceptibility to malignant hyperthermia...Anectine [succinylcholine] can induce malignant hyperthermia in patients with known or suspected susceptibility based on genetic factors or family history, including those with certain inherited ryanodine receptor (RYR1) or dihydropyridine receptor (CACNA1S) variants...Succinylcholine is metabolized by plasma cholinesterase and should be used with caution, if at all, in patients known to be or suspected of being homozygous for the atypical plasma cholinesterase gene [BCHE] ." See label for more information. * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

tacrolimus

Some position data used to define CYP3A5 alleles is missing which may change the matched genotype. See CYP3A5 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
Phenotype

Poor Metabolizer

 CYP3A5: Higher ("normal") dose-adjusted trough concentrations of tacrolimus and increased chance of achieving target tacrolimus concentrations. Initiate therapy with standard recommended dose. Use therapeutic drug monitoring to guide dose adjustments.

Other Considerations

This recommendation includes the use of tacrolimus in kidney, heart, lung and hematopoietic stem cell transplant patients, and liver transplant patients where the donor and recipient genotypes are identical. Typically with other CYP enzymes, a normal metabolizer would be classified as having normal metabolism, and therefore, the drug dose would not change based on the patient’s genotype. However, in the case of CYP3A5 and tacrolimus, a CYP3A5 expresser (i.e., CYP3A5 normal metabolizer or intermediate metabolizer) would require a higher recommended starting dose and the CYP3A5 non-expresser (i.e., poor metabolizer) would require the standard recommended starting dose. 		Strong

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Poor Metabolizer

 The guideline does not provide a description of the impact of a non-expressor phenotype on tacrolimus. The guideline does not provide a recommendation for tacrolimus in CYP3A5 non-expressers. No recommendation

FDA PGx Association 1

Genotype
CYP3A5:*3/*3
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

tafenoquine

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Some position data used to define G6PD alleles is missing which may change the matched genotype. See G6PD in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • G6PD:B (reference)/B (reference)
Phenotype

Normal

 G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status

Other Considerations

Tafenoquine’s safety has been established for a G6PD enzyme activity ≥70% of normal. (Inclusion criteria for clinical trials involving tafenoquine included G6PD activity ≥70%.) 		Strong

FDA Label Annotation 1

Genotype
G6PD:B (reference)/B (reference)
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

tegafur

Some position data used to define DPYD alleles is missing which may change the matched genotype. See DPYD in Section III for for more information.
Source Genes Implications Recommendation Classification

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
  • DPYD:c.1601G>A (*4);
    DPYD:c.1627A>G (*5)
Phenotype

Normal Metabolizer

Activity Score

2.0

 The guideline does not provide a description of the impact of a DPYD activity score of 2 on tegafur. The guideline does not provide a recommendation for tegafur in patients with a DPYD activity score of 2. No recommendation

Citations:

tenoxicam

Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 CYP2C9: Mildly reduced metabolism Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals.

Other Considerations

IMs might have a higher than normal risk of adverse events especially in individuals with other factors affecting clearance of these drugs such as hepatic impairment or advanced age. 		Moderate

Citations:

thioguanine

Some position data used to define NUDT15 alleles is missing which may change the matched genotype. See NUDT15 in Section III for for more information.
Some position data used to define TPMT alleles is missing which may change the matched genotype. See TPMT in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
Phenotypes
NUDT15:
Normal Metabolizer
TPMT:
Normal Metabolizer
  • NUDT15: Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression
  • TPMT: Lower concentrations of TGN metabolites, but note that TGN after thioguanine are 5-10X higher than TGN after mercaptopurine or azathioprine. Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression.
 Start with normal starting dose (e.g., 40-60 mg/m2/day) and adjust doses of thioguanine and of other myelosuppressive therapy without any special emphasis on thioguanine. Allow 2 weeks to reach steady-state after each dose adjustment (PMID 20354201, 11037857).

Other Considerations

Normal starting doses vary by race/ethnicity and treatment regimens. If standard dose is below normal recommended dose, dose reduction might not be recommended for intermediate metabolizers. 		Strong

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Normal Metabolizer

 The guideline does not provide a description of the impact of a normal metabolizer phenotype on thioguanine. The guideline does not provide a recommendation for thioguanine in normal metabolizers No recommendation

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Normal Metabolizer

 The guideline does not provide a description of the impact of a normal metabolizer phenotype on thioguanine. The guideline does not provide a recommendation for thioguanine in normal metabolizers. No recommendation

FDA Label Annotation 1

Genotypes
NUDT15:*1/*1;
TPMT:*1/*1
 
FDA Label Annotation provides no genotype-based recommendations for this genotype, after evaluating the evidence.

FDA PGx Association 1

Genotypes
NUDT15:*1/*1;
TPMT:*1/*1
 
FDA PGx Association provides no genotype-based recommendations for this genotype, after evaluating the evidence.

Citations:

toluidine blue

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
Some position data used to define G6PD alleles is missing which may change the matched genotype. See G6PD in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • G6PD:B (reference)/B (reference)
Phenotype

Normal

 G6PD: Low risk of acute hemolytic anemia No reason to avoid based on G6PD status

Other Considerations

Toluidine blue classification strength is based on extrapolation from methylene blue data 		Strong

Citations:

trimipramine

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
general

No Action
Genotype
  • CYP2C19:*1/*2;
    CYP2D6:Not called - no variant data provided
Phenotypes
CYP2C19:
Intermediate Metabolizer
CYP2D6:
No Result
Activity Scores
CYP2C19:
N/A
CYP2D6:
No Result
  • CYP2C19: Reduced metabolism of tertiary amines compared to normal metabolizers
  • CYP2D6: n/a
 Initiate therapy with recommended starting dose.

Other Considerations

Patients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. 		Optional

Citations:

voriconazole

Some position data used to define CYP2C19 alleles is missing which may change the matched genotype. See CYP2C19 in Section III for for more information.
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
adults

No Action
Genotype
Phenotype

Intermediate Metabolizer

 CYP2C19: Higher dose-adjusted trough concentrations of voriconazole compared with normal metabolizers Initiate therapy with recommended standard of care dosing

Other Considerations

Further dose adjustments or selection of alternative therapy may be necessary due to other clinical factors, such as drug interactions, hepatic function, renal function, species, site of infection, therapeutic drug monitoring, and comorbidities. 		Moderate

CPIC Guideline Annotation

Population:
pediatrics

No Action
Genotype
Phenotype

Intermediate Metabolizer

 CYP2C19: Higher dose-adjusted trough concentrations of voriconazole compared with normal metabolizers Initiate therapy with recommended standard of care dosing

Other Considerations

Further dose adjustments or selection of alternative therapy may be necessary due to other clinical factors, such as drug interactions, hepatic function, renal function, species, site of infection, therapeutic drug monitoring, and comorbidities. 		Moderate

DPWG Guideline Annotation

Population:
Unspecified

Other Guidance
Genotype
Phenotype

Intermediate Metabolizer

 The gene variation can reduce the conversion of voriconazole and consequently increase the plasma concentration. This could result in improved efficacy or an increase in the risk of side effects. Monitor the plasma concentration. Unspecified

FDA PGx Association [Pharmacogenetic Associations for which the Data Indicate a Potential Impact on Safety or Response]

Affected subgroup: CYP2C19 intermediate or poor metabolizers

Other Guidance
Genotype
Phenotype

Intermediate Metabolizer

 "Results in higher systemic concentrations and may result in higher adverse reaction risk." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

warfarin

Some position data used to define CYP2C9 alleles is missing which may change the matched genotype. See CYP2C9 in Section III for for more information.
Some position data used to define CYP4F2 alleles is missing which may change the matched genotype. See CYP4F2 in Section III for for more information.
Please follow the flow chart in figure 2 of the CPIC warfarin guideline to determine the appropriate dosing recommendation.
The CPIC warfarin guideline only considers a single SNV in VKORC1 (rs9923231), which has varying frequency among different ancestral populations, and largely explains the differences in average dose requirements between people of European, African, and Asian descents. While other functional variants in VKORC1 have been associated with warfarin resistance (high dose requirements), there are currently no CPIC recommendations for how to use these other variants in warfarin dosing. An alternate name for rs9923231 is -1639G>A (note that VKORC1 is on the negative chromosomal strand, so displayed alleles are complemented).
Source Genes Implications Recommendation Classification

CPIC Guideline Annotation

Population:
N/A
Genotype
  • CYP2C9:*1/*2;
    CYP4F2:*1/*1;
    VKORC1:rs9923231 reference (C)/
     rs9923231 variant (T)    ;
    rs12777823:A/G
Figure 2 from the CPIC guideline for warfarin

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 Genetic variation may lead to a decrease in the required maintenance dose. However, there is insufficient evidence that this causes problems when therapy is initiated as usual. NO action is required for this gene-drug interaction. Unspecified

DPWG Guideline Annotation

Population:
Unspecified

No Action
Genotype
  • VKORC1:rs9923231 reference (C)/
     rs9923231 variant (T)
Phenotype

-1639 AG

 The genetic variation results in a reduction in the required dose and an increase in the risk of excessively severe inhibition of blood clotting during the first month of the treatment. However, the effect is small and GA is also the most common genotype, meaning that the standard treatment will primarily be based on patients with this genotype. NO action is required for the gene-drug interaction. Unspecified

FDA Label Annotation

Population:
Unspecified

Dosing Info
Genotype
  • CYP2C9:*1/*2;
    VKORC1:rs9923231 reference (C)/
     rs9923231 variant (T)
Phenotypes
CYP2C9:
Intermediate Metabolizer
VKORC1:
-1639 AG
Activity Scores
CYP2C9:
1.5
VKORC1:
N/A
 Table 1 in the drug label provides ranges of expected maintenance daily doses of warfarin (COUMADIN) based on CYP2C9*2, CYP2C9*3 and VKORC1−1639G>A (rs9923231) genotypes. For CYP2C9*1/*2, VKORC1 AG (rs9923231TC), the range of expected maintenance daily dose is 3-4 mg. * Unspecified

FDA PGx Association [Pharmacogenetic Associations for which the Data Support Therapeutic Management Recommendations]

CYP2C9 intermediate or poor metabolizers

Dosing Info
Other Guidance
Genotype
Phenotype

Intermediate Metabolizer

Activity Score

1.5

 "Alters systemic concentrations and dosage requirements. Select initial dosage, taking into account clinical and genetic factors. Monitor and adjust dosages based on INR." * Unspecified

FDA PGx Association [Pharmacogenetic Associations for which the Data Support Therapeutic Management Recommendations]

-1639G>A variant carriers

Dosing Info
Other Guidance
Genotype
  • VKORC1:rs9923231 reference (C)/
     rs9923231 variant (T)
Phenotype

-1639 AG

 "Alters dosage requirements. Select initial dosage, taking into account clinical and genetic factors. Monitor and adjust dosages based on INR." * Unspecified
* Text in quotation is taken directly from the FDA Label or FDA PGx Association table. For a label PDF with highlighted PGx content use the link in the Source column or go to ClinPGx.

Citations:

Drugs With No Guidance

The following drugs are known to be associated with genes in this report but have no guidance for the specific genotypes in this report. For more information, see the "Prescribing Info" page on ClinPGx.

  • Ascorbic acid (vitamin C), combinations
  • Ascorbic acid (vitamin C), plain
  • abrocitinib
  • amifampridine
  • amifampridine phosphate
  • articaine / epinephrine
  • belinostat
  • belzutifan
  • bupivacaine
  • carisoprodol
  • chloroquine
  • chlorpropamide
  • dabrafenib
  • deuruxolitinib
  • diazepam
  • dolutegravir
  • elagolix
  • erdafitinib
  • esomeprazole
  • flibanserin
  • flucloxacillin
  • flutamide
  • glimepiride
  • glipizide
  • glyburide
  • hydroxychloroquine
  • isoniazid
  • lesinurad
  • lidocaine / prilocaine
  • lidocaine and tetracaine
  • mepivacaine
  • moviprep
  • nalidixic acid
  • nateglinide
  • nilotinib
  • oxymetazoline and tetracaine
  • pazopanib
  • peginterferon alfa-2a
  • peginterferon alfa-2b
  • procainamide
  • rabeprazole
  • raltegravir
  • ribavirin
  • ropivacaine
  • sacituzumab govitecan
  • seladelpar
  • sodium ascorbate
  • sodium nitrite
  • sulfamethoxazole / trimethoprim
  • sulfasalazine
  • tolazamide
  • tolbutamide

Section III: Allele Matching Details

  1. ABCG2 allele match data
  2. CFTR allele match data
  3. CYP2B6 allele match data
  4. CYP2C19 allele match data
  5. CYP2C9 allele match data
  6. CYP3A4 allele match data
  7. CYP3A5 allele match data
  8. CYP4F2 allele match data
  9. DPYD allele match data
  10. G6PD allele match data
  11. HLA-A allele match data
  12. HLA-B allele match data
  13. IFNL3/4 allele match data
  14. NAT2 allele match data
  15. NUDT15 allele match data
  16. RYR1 allele match data
  17. SLCO1B1 allele match data
  18. TPMT allele match data
  19. UGT1A1 allele match data
  20. VKORC1 allele match data

No data provided for CACNA1S, CYP2D6.

ABCG2 allele match data

Variant Matched: rs2231142 reference (G)/rs2231142 reference (G)
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr4:88131171 rs2231142 G/G G
  • rs2231142 variant (T) - Decreased function

CFTR allele match data

Variant Matched: Reference/Reference
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Alleles Not Considered:

The following alleles are not considered due to 78 missing positions of the total 93 positions: 711+3A->G, 2789+5G->A, 3272-26A->G, 3849+10kbC->T, A120T, A234D, A349V, A455E, A1067T, D110E, D110H, D192G, D579G, D924N, D1152H, E56K, E193K, E822K, E831X, F311L, F311del, F1052V, F1074L, G178E, G178R, G194R(G>A), G194R(G>C), G314E, G551D, G551S, G970D, G1244E, G1249R(G>A), G1249R(G>C), G1349D, H939R, H1375P, I175V, I807M, I1027T, I1139V, K1060T, L206W, L1480P, M152V, M952I(G>A), M952I(G>C), M952I(G>T), M952T, P67L, Q237E, Q237H, Q359R, Q1291R, R117C, R117G, R117H, R117L, R117P, R170H, R347H, R347L, R352Q, R553Q, R792G, R933G, R1070W, R1283M, S549R(A>C), S549R(T>G), S589N, S737F, S945L, S977F, S1159F, S1159P, S1251N, S1255P, T338I, T1053I, V232D, V562I, V1293G, W1282R, Y1014C, Y1032C

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr7:117509089 rs115545701 C/C C
  • R74W - ivacaftor responsive
chr7:117509093 rs1800076 G/G G
  • R75Q - ivacaftor responsive
chr7:117531068 rs35516286 T/T T
  • I148T - ivacaftor responsive
chr7:117540188 rs144476686 T/T T
  • L320V - ivacaftor responsive
chr7:117559594 rs74571530 T/T T
  • F508C - ivacaftor responsive
  • F508C,S1251N - ivacaftor responsive
chr7:117587800 rs121908755 G/G G
  • S549N - ivacaftor responsive
chr7:117590400 rs1800098 G/G G
  • G576A - ivacaftor responsive
chr7:117592169 rs1800100 C/C C
  • R668C - ivacaftor responsive
chr7:117592427 rs150157202 G/G G
  • V754M - ivacaftor responsive
chr7:117603774 rs1800110 T/T T
  • L967S - ivacaftor responsive
chr7:117610521 rs1800111 G/G G
  • L997F(G>C) - ivacaftor responsive
  • L997F(G>T) - ivacaftor responsive
chr7:117611646 rs200321110 G/G G
  • G1069R - ivacaftor responsive
chr7:117611650 rs78769542 G/G G
  • R1070Q - ivacaftor responsive
chr7:117627538 rs1800120 G/G G
  • R1162L - ivacaftor responsive
chr7:117642528 rs11971167 G/G G
  • D1270N - ivacaftor responsive
chr7:117509035 rs397508256
Missing
 G
  • E56K - ivacaftor responsive
chr7:117509069 rs368505753
Missing
 C
  • P67L - ivacaftor responsive
chr7:117530953 rs113993958
Missing
 G
  • D110H - ivacaftor responsive
chr7:117530955 rs397508537
Missing
 C
  • D110E - ivacaftor responsive
chr7:117530974 rs77834169
Missing
 C
  • R117C - ivacaftor responsive
  • R117G - ivacaftor responsive
chr7:117530975 rs78655421
Missing
 G
  • R117H - ivacaftor responsive
  • R117L - ivacaftor responsive
  • R117P - ivacaftor responsive
chr7:117530983 rs201958172
Missing
 G
  • A120T - ivacaftor responsive
chr7:117531079 rs397508721
Missing
 A
  • M152V - ivacaftor responsive
chr7:117534295 rs1800079
Missing
 G
  • R170H - ivacaftor responsive
chr7:117534309 rs397508744
Missing
 A
  • I175V - ivacaftor responsive
chr7:117534318 rs80282562
Missing
 G
  • G178R - ivacaftor responsive
chr7:117534319 rs397508748
Missing
 G
  • G178E - ivacaftor responsive
chr7:117534361 rs397508758
Missing
 A
  • D192G - ivacaftor responsive
chr7:117534363 rs397508759
Missing
 G
  • E193K - ivacaftor responsive
chr7:117534368 rs397508761
Missing
 A
  • 711+3A->G - ivacaftor responsive
chr7:117535248 rs376008630
Missing
 G
  • G194R(G>A) - ivacaftor responsive
  • G194R(G>C) - ivacaftor responsive
chr7:117535285 rs121908752
Missing
 T
  • L206W - ivacaftor responsive
chr7:117535363 rs397508783
Missing
 T
  • V232D - ivacaftor responsive
chr7:117535369 rs769016520
Missing
 C
  • A234D - ivacaftor responsive
chr7:117535377 rs397508784
Missing
 C
  • Q237E - ivacaftor responsive
chr7:117535379 rs397508785
Missing
 G
  • Q237H - ivacaftor responsive
chr7:117540156
Missing
 CCTT
  • F311del - ivacaftor responsive
chr7:117540161 rs2116683801
Missing
 T
  • F311L - ivacaftor responsive
chr7:117540171 rs75763344
Missing
 G
  • G314E - ivacaftor responsive
chr7:117540243 rs77409459
Missing
 C
  • T338I - ivacaftor responsive
chr7:117540270 rs77932196
Missing
 G
  • R347H - ivacaftor responsive
  • R347L - ivacaftor responsive
chr7:117540276 rs121909021
Missing
 C
  • A349V - ivacaftor responsive
chr7:117540285 rs121908753
Missing
 G
  • R352Q - ivacaftor responsive
chr7:117540306 rs397508153
Missing
 A
  • Q359R - ivacaftor responsive
chr7:117548795 rs74551128
Missing
 C
  • A455E - ivacaftor responsive
chr7:117587799 rs121908757
Missing
 A
  • S549R(A>C) - ivacaftor responsive
chr7:117587801 rs121909005
Missing
 T
  • S549R(T>G) - ivacaftor responsive
chr7:117587805 rs121909013
Missing
 G
  • G551S - ivacaftor responsive
chr7:117587806 rs75527207
Missing
 G
  • G551D - ivacaftor responsive
chr7:117587812 rs121909044
Missing
 G
  • R553Q - ivacaftor responsive
chr7:117590357 rs1800097
Missing
 G
  • V562I - ivacaftor responsive
chr7:117590409 rs397508288
Missing
 A
  • D579G - ivacaftor responsive
chr7:117590439 rs397508300
Missing
 G
  • S589N - ivacaftor responsive
chr7:117592377 rs186089140
Missing
 C
  • S737F - ivacaftor responsive
chr7:117592541 rs145449046
Missing
 C
  • R792G - ivacaftor responsive
chr7:117592588 rs1800103
Missing
 A
  • I807M - ivacaftor responsive
chr7:117592631 rs397508378
Missing
 G
  • E822K - ivacaftor responsive
chr7:117594930 rs397508387
Missing
 G
  • E831X - ivacaftor responsive
chr7:117602868 rs80224560
Missing
 G
  • 2789+5G->A - ivacaftor responsive
chr7:117603644 rs201759207
Missing
 G
  • D924N - ivacaftor responsive
chr7:117603671 rs397508436
Missing
 A
  • R933G - ivacaftor responsive
chr7:117603690 rs397508440
Missing
 A
  • H939R - ivacaftor responsive
chr7:117603708 rs397508442
Missing
 C
  • S945L - ivacaftor responsive
chr7:117603729 rs142773283
Missing
 T
  • M952T - ivacaftor responsive
chr7:117603730 rs151048781
Missing
 G
  • M952I(G>A) - ivacaftor responsive
  • M952I(G>C) - ivacaftor responsive
  • M952I(G>T) - ivacaftor responsive
chr7:117606674 rs386134230
Missing
 G
  • G970D - ivacaftor responsive
chr7:117606695 rs141033578
Missing
 C
  • S977F - ivacaftor responsive
chr7:117610571 rs149279509
Missing
 A
  • Y1014C - ivacaftor responsive
chr7:117610610 rs1800112
Missing
 T
  • I1027T - ivacaftor responsive
chr7:117610625 rs144055758
Missing
 A
  • Y1032C - ivacaftor responsive
chr7:117611555 rs76151804
Missing
 A
  • 3272-26A->G - ivacaftor responsive
chr7:117611595 rs150212784
Missing
 T
  • F1052V - ivacaftor responsive
chr7:117611599 rs140883683
Missing
 C
  • T1053I - ivacaftor responsive
chr7:117611620 rs397508513
Missing
 A
  • K1060T - ivacaftor responsive
chr7:117611640 rs121909020
Missing
 G
  • A1067T - ivacaftor responsive
chr7:117611649 rs202179988
Missing
 C
  • R1070W - ivacaftor responsive
chr7:117611663 rs186045772
Missing
 T
  • F1074L - ivacaftor responsive
chr7:117614660 rs397508556
Missing
 A
  • I1139V - ivacaftor responsive
chr7:117614699 rs75541969
Missing
 G
  • D1152H - ivacaftor responsive
chr7:117627528 rs397508572
Missing
 T
  • S1159P - ivacaftor responsive
chr7:117627529 rs397508573
Missing
 C
  • S1159F - ivacaftor responsive
chr7:117639961 rs75039782
Missing
 C
  • 3849+10kbC->T - ivacaftor responsive
chr7:117642451 rs267606723
Missing
 G
  • G1244E - ivacaftor responsive
chr7:117642465 rs397508602
Missing
 G
  • G1249R(G>A) - ivacaftor responsive
  • G1249R(G>C) - ivacaftor responsive
chr7:117642472 rs74503330
Missing
 G
  • F508C,S1251N - ivacaftor responsive
  • S1251N - ivacaftor responsive
chr7:117642483 rs121909041
Missing
 T
  • S1255P - ivacaftor responsive
chr7:117642564 rs397508616
Missing
 T
  • W1282R - ivacaftor responsive
chr7:117642568 rs77902683
Missing
 G
  • R1283M - ivacaftor responsive
chr7:117642592 rs397508621
Missing
 A
  • Q1291R - ivacaftor responsive
chr7:117652846
Missing
 T
  • V1293G - ivacaftor responsive
chr7:117664770 rs193922525
Missing
 G
  • G1349D - ivacaftor responsive
chr7:117664848 rs397508678
Missing
 A
  • H1375P - ivacaftor responsive
chr7:117667104 rs758818611
Missing
 T
  • L1480P - ivacaftor responsive

CYP2B6 allele match data

Allele Matched: *1/*1
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Alleles Not Considered:

The following alleles are not considered due to 22 missing positions of the total 48 positions: *3, *4, *21, *24, *25, *28, *31, *32, *44, *46, *47, *49

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

The CYP2B6 *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions either because the position is reference or missing.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr19:40991224 rs34223104 T/T T
  • *22 - Uncertain function
  • *34 - Decreased function
  • *35 - Uncertain function
  • *36 - Decreased function
  • *50 - Unassigned
chr19:40991367 rs34883432 A/A A
  • *10 - Uncertain function
chr19:40991369 rs8192709 C/C C
  • *2 - Normal function
  • *10 - Uncertain function
chr19:40991388 rs33980385 A/A A
  • *17 - Normal function
chr19:40991390 rs33926104 C/C C
  • *17 - Normal function
chr19:40991391 rs34284776 G/G G
  • *17 - Normal function
chr19:40991441 rs35303484 A/A A
  • *11 - Uncertain function
chr19:41004125 rs36060847 G/G G
  • *12 - No function
chr19:41004158 rs186335453 G/G G
  • *35 - Uncertain function
chr19:41004303 rs139801276 T/T T
  • *35 - Uncertain function
chr19:41004377 rs12721655 A/A A
  • *8 - No function
  • *13 - No function
chr19:41004381 rs35773040 G/G G
  • *14 - Uncertain function
chr19:41004406 rs145884402 G/G G
  • *35 - Uncertain function
chr19:41004435 rs141666881 G/G G
  • *50 - Unassigned
chr19:41006919 rs3826711 C/C C
  • *26 - Decreased function
chr19:41006936 rs3745274 G/G G
  • *6 - Decreased function
  • *7 - Decreased function
  • *9 - Decreased function
  • *13 - No function
  • *19 - Decreased function
  • *20 - Decreased function
  • *26 - Decreased function
  • *34 - Decreased function
  • *36 - Decreased function
  • *37 - Decreased function
  • *38 - No function
  • *39 - Decreased function
  • *40 - Decreased function
  • *41 - Decreased function
  • *42 - Decreased function
  • *43 - Decreased function
chr19:41006967 rs58871670 G/G G
  • *45 - Uncertain function
chr19:41007013 rs36079186 T/T T
  • *27 - Uncertain function
  • *35 - Uncertain function
chr19:41010006 rs139029625 G/G G
  • *35 - Uncertain function
chr19:41012316 rs28399499 T/T T
  • *18 - No function
chr19:41012339 rs34826503 C/C C
  • *19 - Decreased function
chr19:41012478 rs200238771 T/T T
  • *48 - Uncertain function
chr19:41012693 rs35979566 T/T T
  • *15 - Uncertain function
chr19:41016726 rs3211369 A/A A
  • *23 - Uncertain function
chr19:41016741 rs117872433 G/G G
  • *43 - Decreased function
chr19:41016810 rs3211371 C/C C
  • *5 - Normal function
  • *7 - Decreased function
  • *33 - Uncertain function
  • *34 - Decreased function
chr19:40991381 rs33973337
Missing
 A
  • *17 - Normal function
chr19:41004015 rs281864907
Missing
 T
  • *38 - No function
chr19:41004133 rs148009906
Missing
 G
  • *44 - Uncertain function
chr19:41004380 rs535039125
Missing
 C
  • *39 - Decreased function
chr19:41006923 rs36056539
Missing
 C
  • *20 - Decreased function
chr19:41006968 rs373489637
Missing
 T
  • *37 - Decreased function
chr19:41009313
Missing
 A
  • *46 - Uncertain function
chr19:41009350 rs45482602
Missing
 C
  • *3 - Uncertain function
chr19:41009358 rs2279343
Missing
 A
  • *4 - Increased function
  • *6 - Decreased function
  • *7 - Decreased function
  • *13 - No function
  • *18 - No function
  • *19 - Decreased function
  • *20 - Decreased function
  • *26 - Decreased function
  • *34 - Decreased function
  • *36 - Decreased function
  • *37 - Decreased function
  • *38 - No function
  • *39 - Decreased function
  • *40 - Decreased function
  • *41 - Decreased function
  • *42 - Decreased function
  • *43 - Decreased function
chr19:41010088 rs34698757
Missing
 C
  • *28 - No function
chr19:41010108 rs193922917
Missing
 C
  • *31 - Normal function
chr19:41012393 rs754621576
Missing
 T
  • *47 - Uncertain function
chr19:41012394 rs780991919
Missing
 A
  • *47 - Uncertain function
chr19:41012465 rs34097093
Missing
 C
  • *28 - No function
chr19:41012466 rs200458614
Missing
 G
  • *40 - Decreased function
chr19:41012471 rs201500445
Missing
 T
  • *41 - Decreased function
chr19:41012740 rs193922918
Missing
 G
  • *32 - Normal function
chr19:41012803 rs35010098
Missing
 C
  • *21 - Uncertain function
chr19:41016652 rs764288403
Missing
 G
  • *49 - Uncertain function
chr19:41016679 rs374099483
Missing
 G
  • *42 - Decreased function
chr19:41016778 rs564083989
Missing
 G
  • *24 - Uncertain function
chr19:41016805 rs2516199080
Missing
 A
  • *25 - Uncertain function

CYP2C19 allele match data

Allele Matched: *1/*2
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Alleles Not Considered:

The following alleles are not considered due to 19 missing positions of the total 35 positions: *16, *30

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr10:94761900 rs12248560 C/C C
  • *4 - No function
  • *17 - Increased function
chr10:94762706 rs28399504 A/A A
  • *4 - No function
chr10:94762712 rs367543002 C/C C
  • *34 - Uncertain function
  • *40 - Unassigned
chr10:94762715 rs367543003 T/T T
  • *34 - Uncertain function
  • *40 - Unassigned
chr10:94762760 rs17882687 A/A A
  • *15 - Normal function
  • *28 - Normal function
  • *35 - No function
  • *39 - Uncertain function
chr10:94775367 rs12769205 G/A A
  • *2 - No function
  • *35 - No function
chr10:94775416 rs41291556 T/T T
  • *8 - No function
chr10:94775423 rs17885179 A/A A
  • *39 - Uncertain function
chr10:94775489 rs17884712 G/G G
  • *9 - Decreased function
chr10:94775507 rs58973490 G/G G
  • *2 - No function
  • *11 - Normal function
chr10:94780574 rs140278421 G/G G
  • *22 - No function
chr10:94780653 rs4986893 G/G G
  • *3 - No function
chr10:94781858 rs6413438 C/C C
  • *10 - Decreased function
chr10:94781859 rs4244285 A/G G
  • *2 - No function
chr10:94842866 rs3758581 G/G A
  • *1 - Normal function
  • *2 - No function
  • *3 - No function
  • *4 - No function
  • *5 - No function
  • *6 - No function
  • *7 - No function
  • *8 - No function
  • *9 - Decreased function
  • *10 - Decreased function
  • *11 - Normal function
  • *12 - Uncertain function
  • *13 - Normal function
  • *14 - Uncertain function
  • *15 - Normal function
  • *17 - Increased function
  • *18 - Normal function
  • *19 - Decreased function
  • *22 - No function
  • *23 - Uncertain function
  • *24 - No function
  • *25 - Decreased function
  • *26 - Decreased function
  • *28 - Normal function
  • *29 - Uncertain function
  • *31 - Uncertain function
  • *32 - Uncertain function
  • *33 - Uncertain function
  • *35 - No function
  • *39 - Uncertain function
  • *40 - Unassigned
  • *41 - Unassigned
chr10:94849995 rs17879685 C/C C
  • *13 - Normal function
chr10:94762755 rs55752064
Missing
 T
  • *14 - Uncertain function
chr10:94762788 rs1564656981
Missing
 A
  • *29 - Uncertain function
chr10:94762856 rs1564657013
Missing
 A
  • *19 - Decreased function
chr10:94775106 rs145328984
Missing
 C
  • *30 - Uncertain function
chr10:94775121 rs1564660997
Missing
 C
  • *31 - Uncertain function
chr10:94775160 rs118203756
Missing
 G
  • *23 - Uncertain function
chr10:94775185 rs1288601658
Missing
 A
  • *32 - Uncertain function
chr10:94775453 rs72552267
Missing
 G
  • *6 - No function
chr10:94780544 rs57700608
Missing
 A
  • *41 - Unassigned
chr10:94780579 rs370803989
Missing
 G
  • *33 - Uncertain function
chr10:94781944 rs375781227
Missing
 G
  • *26 - Decreased function
chr10:94781999 rs72558186
Missing
 T
  • *7 - No function
chr10:94842861 rs138142612
Missing
 G
  • *18 - Normal function
chr10:94842879 rs118203757
Missing
 G
  • *24 - No function
chr10:94842995 rs113934938
Missing
 G
  • *28 - Normal function
chr10:94852738 rs56337013
Missing
 C
  • *5 - No function
chr10:94852765 rs192154563
Missing
 C
  • *16 - Decreased function
chr10:94852785 rs118203759
Missing
 C
  • *25 - Decreased function
chr10:94852914 rs55640102
Missing
 A
  • *12 - Uncertain function

CYP2C9 allele match data

Allele Matched: *1/*2
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Alleles Not Considered:

The following alleles are not considered due to 65 missing positions of the total 83 positions: *4, *6, *10, *15, *16, *17, *19, *20, *21, *22, *23, *24, *25, *28, *30, *32, *33, *34, *37, *38, *39, *40, *41, *42, *43, *46, *47, *48, *49, *50, *51, *52, *53, *54, *55, *56, *57, *58, *59, *60, *62, *63, *64, *65, *67, *69, *70, *72, *73, *74, *75, *76, *77, *78, *79, *80, *81, *82, *83, *84, *85, *87, *88

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

The CYP2C9 *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions either because the position is reference or missing.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr10:94938683 rs114071557 A/A A
  • *36 - Uncertain function
chr10:94938737 rs67807361 C/C C
  • *7 - Uncertain function
chr10:94941958 rs72558187 T/T T
  • *13 - Activity Value 0.0 (No function)
chr10:94942234 rs72558189 G/G G
  • *14 - Activity Value 0.5 (Decreased function)
  • *35 - Activity Value 0.0 (No function)
chr10:94942249 rs200965026 C/C C
  • *26 - Activity Value 0.5 (Decreased function)
  • *44 - Activity Value 0.5 (Decreased function)
chr10:94942254 rs199523631 C/C C
  • *45 - Activity Value 0.0 (No function)
chr10:94942290 rs1799853 C/T C
  • *2 - Activity Value 0.5 (Decreased function)
  • *35 - Activity Value 0.0 (No function)
  • *61 - Activity Value 0.5 (Decreased function)
chr10:94942309 rs7900194 G/G G
  • *8 - Activity Value 0.5 (Decreased function)
  • *27 - Uncertain function
chr10:94949184 rs369745682 T/T T
  • *86 - Unassigned
chr10:94949217 rs2256871 A/A A
  • *9 - Activity Value 1.0 (Normal function)
chr10:94972119 rs182132442 C/C C
  • *29 - Activity Value 0.5 (Decreased function)
chr10:94981201 rs57505750 T/T T
  • *31 - Activity Value 0.5 (Decreased function)
chr10:94981224 rs28371685 C/C C
  • *11 - Activity Value 0.5 (Decreased function)
chr10:94981296 rs1057910 A/A A
  • *3 - Activity Value 0.0 (No function)
  • *18 - Uncertain function
  • *68 - Uncertain function
chr10:94981301 rs28371686 C/C C
  • *5 - Activity Value 0.5 (Decreased function)
  • *36 - Uncertain function
chr10:94981305 rs578144976 C/C C
  • *66 - Uncertain function
chr10:94988925 rs202201137 A/A A
  • *61 - Activity Value 0.5 (Decreased function)
chr10:94989020 rs9332239 C/C C
  • *12 - Activity Value 0.5 (Decreased function)
  • *71 - Uncertain function
chr10:94938719
Missing
 T
  • *80 - Unassigned
chr10:94938771 rs142240658
Missing
 C
  • *21 - Uncertain function
chr10:94938788
Missing
 C
  • *83 - Unassigned
chr10:94938800 rs1364419386
Missing
 G
  • *76 - Unassigned
chr10:94938803 rs2031308986
Missing
 A
  • *22 - Uncertain function
chr10:94938828 rs564813580
Missing
 A
  • *37 - Activity Value 0.5 (Decreased function)
chr10:94941897 rs371055887
Missing
 G
  • *20 - Uncertain function
chr10:94941915 rs1216169538
Missing
 G
  • *23 - Activity Value 0.5 (Decreased function)
chr10:94941975 rs2493006942
Missing
 G
  • *77 - Unassigned
chr10:94941976 rs761033063
Missing
 G
  • *38 - Activity Value 0.5 (Decreased function)
chr10:94941982 rs762239445
Missing
 G
  • *39 - Activity Value 0.0 (No function)
chr10:94942018
Missing
 T
  • *40 - Uncertain function
chr10:94942205 rs1304490498
Missing
 CAATGGAAA
GA
  • *25 - Activity Value 0.0 (No function)
chr10:94942216 rs774607211
Missing
 A
  • *41 - Uncertain function
chr10:94942230 rs767576260
Missing
 C
  • *43 - Activity Value 0.0 (No function)
chr10:94942231 rs12414460
Missing
 G
  • *42 - Activity Value 0.0 (No function)
chr10:94942233 rs375805362
Missing
 C
  • *62 - Uncertain function
chr10:94942240 rs530507053
Missing
 C
  • *88 - Unassigned
chr10:94942243 rs1375956433
Missing
 T
  • *78 - Unassigned
chr10:94942255 rs200183364
Missing
 G
  • *33 - Activity Value 0.0 (No function)
chr10:94942291 rs141489852
Missing
 G
  • *63 - Uncertain function
chr10:94942305 rs754487195
Missing
 G
  • *46 - Activity Value 0.5 (Decreased function)
chr10:94942306 rs1289704600
Missing
 C
  • *72 - Unknown function
chr10:94942308 rs17847037
Missing
 C
  • *73 - Unknown function
chr10:94947782 rs72558190
Missing
 C
  • *15 - Activity Value 0.0 (No function)
chr10:94947785 rs774550549
Missing
 C
  • *47 - Uncertain function
chr10:94947869 rs2492587526
Missing
 A
  • *69 - Uncertain function
chr10:94947907
Missing
 A
  • *57 - Unknown function
chr10:94947917 rs1326630788
Missing
 T
  • *48 - Uncertain function
chr10:94947938 rs2031531005
Missing
 A
  • *28 - Activity Value 0.5 (Decreased function)
chr10:94947939 rs370100007
Missing
 G
  • *74 - Unknown function
chr10:94949129
Missing
 A
  • *49 - Uncertain function
chr10:94949144 rs2492591692
Missing
 C
  • *50 - Activity Value 0.5 (Decreased function)
chr10:94949145 rs772782449
Missing
 C
  • *82 - Unassigned
chr10:94949161
Missing
 AT
  • *85 - Unassigned
chr10:94949280 rs9332130
Missing
 A
  • *10 - Uncertain function
  • *71 - Uncertain function
chr10:94949281 rs9332131
Missing
 GA
  • *6 - Activity Value 0.0 (No function)
chr10:94972123
Missing
 C
  • *64 - Uncertain function
chr10:94972134 rs2492634549
Missing
 A
  • *51 - Uncertain function
chr10:94972179 rs72558192
Missing
 A
  • *16 - Activity Value 0.5 (Decreased function)
chr10:94972180 rs988617574
Missing
 C
  • *52 - Activity Value 0.0 (No function)
chr10:94972183
Missing
 A
  • *81 - Unassigned
chr10:94972194 rs546318684
Missing
 A
  • *87 - Unassigned
chr10:94972233 rs1237225311
Missing
 C
  • *53 - Uncertain function
chr10:94981199
Missing
 G
  • *65 - Uncertain function
chr10:94981225 rs367826293
Missing
 G
  • *34 - Uncertain function
chr10:94981230 rs1274535931
Missing
 C
  • *58 - Uncertain function
chr10:94981250 rs750820937
Missing
 C
  • *54 - Uncertain function
chr10:94981258 rs1297714792
Missing
 C
  • *79 - Unassigned
chr10:94981281 rs749060448
Missing
 G
  • *24 - Activity Value 0.0 (No function)
chr10:94981297 rs56165452
Missing
 T
  • *4 - Activity Value 0.5 (Decreased function)
chr10:94981302 rs1250577724
Missing
 C
  • *55 - Activity Value 0.5 (Decreased function)
chr10:94981365 rs2492650213
Missing
 C
  • *17 - Uncertain function
chr10:94981371 rs542577750
Missing
 G
  • *68 - Uncertain function
chr10:94986042 rs764211126
Missing
 A
  • *56 - Uncertain function
chr10:94986073 rs72558193
Missing
 A
  • *18 - Uncertain function
chr10:94986136 rs1254213342
Missing
 A
  • *75 - Unknown function
chr10:94986174 rs1441296358
Missing
 G
  • *84 - Unassigned
chr10:94988852 rs776908257
Missing
 C
  • *67 - Uncertain function
chr10:94988855 rs2492662738
Missing
 A
  • *59 - Uncertain function
chr10:94988880 rs2492662839
Missing
 G
  • *70 - Uncertain function
chr10:94988917 rs769942899
Missing
 G
  • *19 - Uncertain function
chr10:94988955 rs767284820
Missing
 T
  • *60 - Uncertain function
chr10:94988984 rs781583846
Missing
 G
  • *30 - Activity Value 0.5 (Decreased function)
chr10:94989023 rs868182778
Missing
 G
  • *32 - Uncertain function

Other Positions of Interest

Position in VCF RSID Call in VCF
chr10:94645745 rs12777823 A/G

CYP3A4 allele match data

Allele Matched: *1/*1
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Alleles Not Considered:

The following alleles are not considered due to 25 missing positions of the total 42 positions: *6, *9, *13, *14, *17, *20, *21, *26, *29, *30, *31, *32, *33, *34, *35, *39, *40, *41, *42, *43, *44, *45, *46, *47, *48

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

The CYP3A4 alleles are determined based on PharmVar CYP3A4 allele definitions. See PharmCAT disclaimer for further information.
The CYP3A4 *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions either because the position is reference or missing.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr7:99760836 rs4986913 G/G G
  • *19 - Unassigned
chr7:99760901 rs4986910 A/A A
  • *3 - Unassigned
  • *37 - Unassigned
  • *38 - Unassigned
chr7:99762177 rs12721629 G/G G
  • *12 - Decreased function
chr7:99762206 rs67784355 G/G G
  • *11 - Decreased function
  • *38 - Unassigned
chr7:99764003 rs28371759 A/A A
  • *18 - Decreased function
chr7:99768360 rs55785340 A/A A
  • *2 - Unassigned
chr7:99768371 rs55901263 G/G G
  • *5 - Unassigned
chr7:99768424 rs113667357 T/T T
  • *24 - Unassigned
chr7:99768470 rs12721627 G/G G
  • *16 - Decreased function
chr7:99768693 rs35599367 G/G G
  • *22 - Decreased function
  • *37 - Unassigned
chr7:99769769 rs4986908 C/C C
  • *10 - Unassigned
chr7:99769804 rs4986907 C/C C
  • *15 - Unassigned
chr7:99769805 rs57409622 G/G G
  • *23 - Unassigned
chr7:99770165 rs72552799 C/C C
  • *8 - Decreased function
chr7:99770202 rs55951658 T/T T
  • *4 - Unassigned
chr7:99778079 rs56324128 C/C C
  • *7 - Unassigned
chr7:99784018 rs570051168 G/G G
  • *28 - Unassigned
chr7:99758183 rs67666821
Missing
 G
  • *20 - No function
chr7:99758228 rs1584538410
Missing
 T
  • *46 - Unassigned
chr7:99760956 rs774109750
Missing
 T
  • *34 - Unassigned
chr7:99762047 rs4986909
Missing
 G
  • *13 - Decreased function
chr7:99762054
Missing
 A
  • *45 - Unassigned
chr7:99762069
Missing
 T
  • *47 - Unassigned
chr7:99762186 rs756833413
Missing
 C
  • *33 - Unassigned
chr7:99762234 rs1318364992
Missing
 C
  • *48 - Unassigned
chr7:99763877 rs368296206
Missing
 A
  • *32 - Unassigned
chr7:99763909 rs1303250043
Missing
 G
  • *31 - Unassigned
chr7:99763925 rs201821708
Missing
 T
  • *21 - Unassigned
chr7:99766411 rs4646438
Missing
 G
  • *6 - No function
chr7:99766424 rs1429705359
Missing
 T
  • *44 - Unassigned
chr7:99766439 rs145582851
Missing
 C
  • *43 - Unassigned
chr7:99766440 rs138105638
Missing
 G
  • *26 - No function
chr7:99768447 rs3208361
Missing
 T
  • *42 - Unassigned
chr7:99768458 rs4987161
Missing
 A
  • *17 - Decreased function
chr7:99769781 rs72552798
Missing
 C
  • *9 - Unassigned
chr7:99770166 rs778013004
Missing
 G
  • *30 - Unassigned
chr7:99770196 rs2485889420
Missing
 T
  • *41 - Unassigned
chr7:99770217 rs1449865051
Missing
 A
  • *29 - Unassigned
chr7:99780036 rs2485908963
Missing
 G
  • *40 - Unassigned
chr7:99784038 rs12721634
Missing
 A
  • *14 - Unassigned
chr7:99784075 rs188389063
Missing
 G
  • *35 - Unassigned
chr7:99784078 rs1226205448
Missing
 C
  • *39 - Unassigned

CYP3A5 allele match data

Allele Matched: *3/*3
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Alleles Not Considered:

The following alleles are not considered due to 2 missing positions of the total 5 positions: *8, *9

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr7:99652770 rs41303343 T/T T
  • *7 - No function
chr7:99665212 rs10264272 C/C C
  • *6 - No function
chr7:99672916 rs776746 C/C T
  • *3 - No function
chr7:99660516 rs28383479
Missing
 C
  • *9 - Unknown function
chr7:99676198 rs55817950
Missing
 G
  • *8 - Unknown function

CYP4F2 allele match data

Allele Matched: *1/*1
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Alleles Not Considered:

The following alleles are not considered due to 7 missing positions of the total 20 positions: *11, *15, *17, *18, *19, *20

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

The CYP4F2 *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions either because the position is reference or missing.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr19:15878779 rs3093200 G/G G
  • *5 - Unassigned
  • *23 - Unassigned
chr19:15879413 rs142113670 G/G G
  • *21 - Unassigned
chr19:15879621 rs2108622 C/C C
  • *3 - Unassigned
  • *4 - Unassigned
  • *22 - Unassigned
chr19:15886018 rs145174239 G/G G
  • *14 - Unassigned
chr19:15889671 rs144233412 C/C C
  • *13 - Unassigned
chr19:15890405 rs3093153 C/C C
  • *6 - Unassigned
chr19:15892541 rs145875499 C/C C
  • *12 - Unassigned
chr19:15895551 rs150579280 T/T T
  • *22 - Unassigned
chr19:15895560 rs144455532 G/G G
  • *10 - Unassigned
chr19:15897466 rs201380574 C/C C
  • *9 - Unassigned
chr19:15897473 rs115517770 G/G G
  • *8 - Unassigned
chr19:15897566 rs114099324 C/C C
  • *7 - Unassigned
chr19:15897578 rs3093105 A/A A
  • *2 - Unassigned
  • *4 - Unassigned
chr19:15878886 rs3952537
Missing
 G
  • *19 - Unassigned
chr19:15878920 rs4020346
Missing
 T
  • *17 - Unassigned
chr19:15879412 rs138971789
Missing
 C
  • *15 - Unassigned
chr19:15892379 rs200629062
Missing
 G
  • *20 - Unassigned
chr19:15892398 rs556151888
Missing
 G
  • *23 - Unassigned
chr19:15895526 rs148396222
Missing
 C
  • *18 - Unassigned
chr19:15895527 rs114396708
Missing
 G
  • *11 - Unassigned

DPYD allele match data

Variants Matched:
  • c.1601G>A (*4)
  • c.1627A>G (*5)
Phasing Status:

Unphased

Alleles Not Considered:

The following alleles are not considered due to 55 missing positions of the total 83 positions: c.46C>G, c.61C>T, c.62G>A, c.295_298delTCAT (*7), c.313G>A, c.343A>G, c.498G>A, c.601A>C, c.632A>G, c.703C>T (*8), c.929T>C, c.934C>T, c.967G>A, c.1003G>T (*11), c.1024G>A, c.1057C>T, c.1108A>G, c.1156G>T (*12), c.1180C>T, c.1181G>T, c.1278G>T, c.1294G>A, c.1314T>G, c.1403C>A, c.1475C>T, c.1484A>G, c.1519G>A, c.1543G>A, c.1577C>G, c.1679T>G (*13), c.1682G>T, c.1774C>T, c.1775G>A, c.1777G>A, c.1796T>C, c.1898delC (*3), c.1905C>G, c.1906A>C, c.1990G>T, c.2021G>A, c.2186C>T, c.2303C>A, c.2482G>A, c.2582A>G, c.2623A>C, c.2639G>T, c.2656C>T, c.2872A>G, c.2921A>T, c.2933A>G, c.2977C>T, c.2983G>T (*10), c.3049G>A, c.3061G>C, c.3067C>A

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

The two lowest activity values (variant activity scores, see CPIC guideline PMID:29152729) are used for unphased data and the lowest activity value per allele is used for phased data to determine the gene activity score and phenotype to retrieve prescribing recommendations.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr1:97079076 rs139459586 A/A A
  • c.2978T>G - Activity Value 1.0 (Normal function)
chr1:97079139 rs145529148 T/T T
  • c.2915A>G - Activity Value 1.0 (Normal function)
chr1:97082391 rs67376798 T/T T
  • c.2846A>T - Activity Value 0.5 (Decreased function)
chr1:97098598 rs1801267 C/C C
  • c.2657G>A (*9B) - Activity Value 1.0 (Normal function)
chr1:97234958 rs199634007 G/G G
  • c.2336C>A - Activity Value 1.0 (Normal function)
chr1:97305279 rs112766203 G/G G
  • c.2279C>T - Activity Value 0.5 (Decreased function)
chr1:97305363 rs60511679 A/A A
  • c.2195T>G - Activity Value 1.0 (Normal function)
chr1:97305364 rs1801160 C/C C
  • c.2194G>A (*6) - Activity Value 1.0 (Normal function)
chr1:97306195 rs145548112 C/C C
  • c.2161G>A - Activity Value 1.0 (Normal function)
chr1:97450058 rs3918290 C/C C
  • c.1905+1G>A (*2A) - Activity Value 0.0 (No function)
chr1:97450068 rs17376848 A/A A
  • c.1896T>C - Activity Value 1.0 (Normal function)
chr1:97515839 rs1801159 C/T T
  • c.1627A>G (*5) - Activity Value 1.0 (Normal function)
chr1:97515851 rs142619737 C/C C
  • c.1615G>A - Activity Value 1.0 (Normal function)
chr1:97515865 rs1801158 C/T C
  • c.1601G>A (*4) - Activity Value 1.0 (Normal function)
chr1:97549713 rs57918000 G/G G
  • c.1371C>T - Activity Value 1.0 (Normal function)
chr1:97549726 rs144395748 G/G G
  • c.1358C>G - Activity Value 1.0 (Normal function)
chr1:97549735 rs72975710 G/G G
  • c.1349C>T - Activity Value 1.0 (Normal function)
chr1:97573839 rs200064537 A/A A
  • c.1260T>A - Activity Value 1.0 (Normal function)
chr1:97573863 rs56038477 C/C C
  • c.1129-5923C>G, c.1236G>A (HapB3) - Activity Value 0.5 (Decreased function)
chr1:97573881 rs61622928 C/C C
  • c.1218G>A - Activity Value 1.0 (Normal function)
chr1:97579893 rs75017182 G/G G
  • c.1129-5923C>G - Activity Value 0.5 (Decreased function)
  • c.1129-5923C>G, c.1236G>A (HapB3) - Activity Value 0.5 (Decreased function)
chr1:97595149 rs146356975 T/T T
  • c.868A>G - Activity Value 0.5 (Decreased function)
chr1:97679170 rs45589337 T/T T
  • c.775A>G - Activity Value 1.0 (Normal function)
chr1:97699474 rs115232898 T/T T
  • c.557A>G - Activity Value 0.5 (Decreased function)
chr1:97699506 rs6670886 C/C C
  • c.525G>A - Activity Value 1.0 (Normal function)
chr1:97699535 rs2297595 T/T T
  • c.496A>G - Activity Value 1.0 (Normal function)
chr1:97721542 rs200562975 T/T T
  • c.451A>G - Activity Value 1.0 (Normal function)
chr1:97883329 rs1801265 A/A A
  • c.85T>C (*9A) - Activity Value 1.0 (Normal function)
chr1:97078987 rs114096998
Missing
 G
  • c.3067C>A - Activity Value 1.0 (Normal function)
chr1:97078993 rs148799944
Missing
 C
  • c.3061G>C - Activity Value 1.0 (Normal function)
chr1:97079005 rs140114515
Missing
 C
  • c.3049G>A - Activity Value 1.0 (Normal function)
chr1:97079071 rs1801268
Missing
 C
  • c.2983G>T (*10) - Activity Value 0.0 (No function)
chr1:97079077 rs202144771
Missing
 G
  • c.2977C>T - Activity Value 1.0 (Normal function)
chr1:97079121 rs72547601
Missing
 T
  • c.2933A>G - Activity Value 0.0 (No function)
chr1:97079133 rs72547602
Missing
 T
  • c.2921A>T - Activity Value 1.0 (Normal function)
chr1:97082365 rs141044036
Missing
 T
  • c.2872A>G - Activity Value 0.0 (No function)
chr1:97098599 rs147545709
Missing
 G
  • c.2656C>T - Activity Value 1.0 (Normal function)
chr1:97098616 rs55674432
Missing
 C
  • c.2639G>T - Activity Value 0.0 (No function)
chr1:97098632 rs201035051
Missing
 T
  • c.2623A>C - Activity Value 1.0 (Normal function)
chr1:97193109 rs60139309
Missing
 T
  • c.2582A>G - Activity Value 1.0 (Normal function)
chr1:97193209 rs200687447
Missing
 C
  • c.2482G>A - Activity Value 1.0 (Normal function)
chr1:97234991 rs56005131
Missing
 G
  • c.2303C>A - Activity Value 1.0 (Normal function)
chr1:97305372 rs146529561
Missing
 G
  • c.2186C>T - Activity Value 1.0 (Normal function)
chr1:97373598 rs137999090
Missing
 C
  • c.2021G>A - Activity Value 0.0 (No function)
chr1:97373629 rs138545885
Missing
 C
  • c.1990G>T - Activity Value 1.0 (Normal function)
chr1:97382461 rs55971861
Missing
 T
  • c.1906A>C - Activity Value 1.0 (Normal function)
chr1:97450059 rs3918289
Missing
 G
  • c.1905C>G - Activity Value 1.0 (Normal function)
chr1:97450065 rs72549303
Missing
 TG
  • c.1898delC (*3) - Activity Value 0.0 (No function)
chr1:97450168 rs147601618
Missing
 A
  • c.1796T>C - Activity Value 1.0 (Normal function)
chr1:97450187 rs145773863
Missing
 C
  • c.1777G>A - Activity Value 0.0 (No function)
chr1:97450189 rs138616379
Missing
 C
  • c.1775G>A - Activity Value 0.0 (No function)
chr1:97450190 rs59086055
Missing
 G
  • c.1774C>T - Activity Value 0.0 (No function)
chr1:97515784 rs201615754
Missing
 C
  • c.1682G>T - Activity Value 1.0 (Normal function)
chr1:97515787 rs55886062
Missing
 A
  • c.1679T>G (*13) - Activity Value 0.0 (No function)
chr1:97515889 rs190951787
Missing
 G
  • c.1577C>G - Activity Value 1.0 (Normal function)
chr1:97515923 rs148994843
Missing
 C
  • c.1543G>A - Activity Value 1.0 (Normal function)
chr1:97549565 rs138391898
Missing
 C
  • c.1519G>A - Activity Value 1.0 (Normal function)
chr1:97549600 rs111858276
Missing
 T
  • c.1484A>G - Activity Value 0.0 (No function)
chr1:97549609 rs72549304
Missing
 G
  • c.1475C>T - Activity Value 0.0 (No function)
chr1:97549681 rs199549923
Missing
 G
  • c.1403C>A - Activity Value 1.0 (Normal function)
chr1:97573785 rs186169810
Missing
 A
  • c.1314T>G - Activity Value 0.5 (Decreased function)
chr1:97573805 rs142512579
Missing
 C
  • c.1294G>A - Activity Value 1.0 (Normal function)
chr1:97573821 rs764666241
Missing
 C
  • c.1278G>T - Activity Value 1.0 (Normal function)
chr1:97573918 rs143815742
Missing
 C
  • c.1181G>T - Activity Value 1.0 (Normal function)
chr1:97573919 rs140602333
Missing
 G
  • c.1180C>T - Activity Value 1.0 (Normal function)
chr1:97573943 rs78060119
Missing
 C
  • c.1156G>T (*12) - Activity Value 0.0 (No function)
chr1:97593238 rs72549305
Missing
 T
  • c.1108A>G - Activity Value 1.0 (Normal function)
chr1:97593289 rs143154602
Missing
 G
  • c.1057C>T - Activity Value 0.0 (No function)
chr1:97593322 rs183385770
Missing
 C
  • c.1024G>A - Activity Value 0.0 (No function)
chr1:97593343 rs72549306
Missing
 C
  • c.1003G>T (*11) - Activity Value 1.0 (Normal function)
chr1:97593379 rs201018345
Missing
 C
  • c.967G>A - Activity Value 1.0 (Normal function)
chr1:97595083 rs145112791
Missing
 G
  • c.934C>T - Activity Value 1.0 (Normal function)
chr1:97595088 rs150437414
Missing
 A
  • c.929T>C - Activity Value 1.0 (Normal function)
chr1:97691776 rs1801266
Missing
 G
  • c.703C>T (*8) - Activity Value 0.0 (No function)
chr1:97699399 rs72549307
Missing
 T
  • c.632A>G - Activity Value 0.0 (No function)
chr1:97699430 rs72549308
Missing
 T
  • c.601A>C - Activity Value 0.0 (No function)
chr1:97699533 rs139834141
Missing
 C
  • c.498G>A - Activity Value 1.0 (Normal function)
chr1:97721650 rs141462178
Missing
 T
  • c.343A>G - Activity Value 1.0 (Normal function)
chr1:97740400 rs150385342
Missing
 C
  • c.313G>A - Activity Value 1.0 (Normal function)
chr1:97740410 rs72549309
Missing
 GATGA
  • c.295_298delTCAT (*7) - Activity Value 0.0 (No function)
chr1:97883352 rs80081766
Missing
 C
  • c.62G>A - Activity Value 1.0 (Normal function)
chr1:97883353 rs72549310
Missing
 G
  • c.61C>T - Activity Value 0.0 (No function)
chr1:97883368 rs150036960
Missing
 G
  • c.46C>G - Activity Value 1.0 (Normal function)

G6PD allele match data

Variant Matched: B (reference)/B (reference)
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Alleles Not Considered:

The following alleles are not considered due to 150 missing positions of the total 171 positions: Aachen, Abeno, Alhambra, Amazonia, Amiens, Amsterdam, Anadia, Andalus, Arakawa, Asahikawa, Aures, Aveiro, Bajo Maumere, Bangkok, Bao Loc, Bari, Belem, Beverly Hills, Genova, Iwate, Niigata, Yamaguchi, Brighton, Buenos Aires, Cairo, Calvo Mackenna, Campinas, Cassano, Chatham, Chikugo, Chinese-1, Cincinnati, Cleveland Corum, Clinic, Costanzo, Covao do Lobo, Crispim, Durham, Farroupilha, Figuera da Foz, Flores, Fukaya, Fushan, Gaohe, Georgia, Gidra, Guadalajara, Guangzhou, Haikou, Hammersmith, Harilaou, Harima, Hartford, Ierapetra, Insuli, Iowa, Walter Reed, Springfield, Iwatsuki, Japan, Shinagawa, Kambos, Kamiube, Keelung, Kamogawa, Kawasaki, Kozukata, Krakow, La Jolla, Lages, Lagosanto, Laibin, Lille, Liuzhou, Loma Linda, Ludhiana, Lynwood, Madrid, Mahidol, Malaga, Manhattan, Metaponto, Mexico City, Minnesota, Marion, Gastonia, LeJeune, Mizushima, Montalbano, Montpellier, Munich, Murcia Oristano, Musashino, Namouru, Nankang, Nanning, Naone, Nara, Nashville, Anaheim, Portici, Neapolis, Nice, Nilgiri, No name, North Dallas, Olomouc, Omiya, Osaka, Palestrina, Partenope, Pawnee, Pedoplis-Ckaro, Piotrkow, Plymouth, Praha, Puerto Limon, Radlowo, Rehevot, Rignano, Riley, Riverside, Roubaix, S. Antioco, Salerno Pyrgos, Santiago, Santiago de Cuba, Morioka, Sao Borja, Seattle, Lodi, Modena, Ferrara II, Athens-like, Seoul, Serres, Shenzen, Shinshu, Sinnai, Songklanagarind, Split, Stonybrook, Sugao, Sumare, Sunderland, Surabaya, Suwalki, Swansea, Taipei, Chinese-3, Telti, Kobe, Tenri, Tokyo, Fukushima, Toledo, Tomah, Tondela, Torun, Tsukui, Ube Konan, Urayasu, Utrecht, Valladolid, Vanua Lava, Volendam, Wayne, West Virginia, Wexham, Wisconsin, Yunan

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

PharmCAT reports based on VCF file input and some VCF files do not specify hemizygous (one X chromosome) and instead represent samples as homozygous. See PharmCAT FAQs (https://pharmcat.org/faqs/).
The G6PD B (reference) allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions either because the position is reference or missing.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chrX:154532257 rs72554664 C/C C
  • Kaiping, Anant, Dhon, Sapporo-like, Wosera - II/Deficient
chrX:154532269 rs72554665 C/C C
  • Bangkok Noi - I/Deficient with CNSHA
  • Canton, Taiwan-Hakka, Gifu-like, Agrigento-like - II/Deficient
  • Cosenza - II/Deficient
chrX:154532390 rs398123546 G/G G
  • Hermoupolis - II/Deficient
  • Honiara - I/Deficient with CNSHA
  • Union,Maewo, Chinese-2, Kalo - II/Deficient
chrX:154532945 rs34193178 C/C C
  • Mira d'Aire - IV/Normal
chrX:154532969 rs137852342 G/G G
  • Chinese-5 - III/Deficient
chrX:154533025 rs76723693 A/A A
  • A- 968C_376G - III/Deficient
chrX:154533044 rs137852339 C/C C
  • Kalyan-Kerala, Jamnaga, Rohini - III/Deficient
chrX:154533122 rs137852327 C/C C
  • Ananindeua - II/Deficient
  • Hechi - II/Deficient
  • Viangchan, Jammu - II/Deficient
chrX:154533591 G/G G
  • Papua - Uncertain function
chrX:154534348 rs782754619 T/T T
  • Sibari - III/Deficient
chrX:154534387 rs781865768 T/T T
  • Dagua - Uncertain function
chrX:154534390 rs137852330 G/G G
  • Coimbra Shunde - II/Deficient
  • Vancouver - I/Deficient with CNSHA
chrX:154534419 rs5030868 G/G G
  • Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham - II/Deficient
chrX:154534463 G/G G
  • Miaoli - II/Deficient
chrX:154535176 rs370918918 C/C C
  • Gond - Uncertain function
chrX:154535187 rs137852313 C/C C
  • Ilesha - III/Deficient
chrX:154535261 C/C C
  • Quing Yan - III/Deficient
chrX:154535277 rs1050829 T/T T
  • 202G>A_376A>G_1264C>G - I/Deficient with CNSHA
  • A - IV/Normal
  • A- 202A_376G - III/Deficient
  • A- 680T_376G - III/Deficient
  • A- 968C_376G - III/Deficient
  • Acrokorinthos - II/Deficient
  • Ananindeua - II/Deficient
  • Mt Sinai - I/Deficient with CNSHA
  • Santa Maria - II/Deficient
  • Sierra Leone - III/Deficient
chrX:154535342 rs181277621 C/C C
  • Sierra Leone - III/Deficient
chrX:154536002 rs1050828 C/C C
  • 202G>A_376A>G_1264C>G - I/Deficient with CNSHA
  • A- 202A_376G - III/Deficient
  • Asahi - III/Deficient
  • Hechi - II/Deficient
chrX:154536168 rs78478128 G/G G
  • Orissa - III/Deficient
chrX:154532046
Missing
 A
  • Bangkok Noi - I/Deficient with CNSHA
chrX:154532055
Missing
 CTCT
  • Brighton - I/Deficient with CNSHA
chrX:154532082
Missing
 G
  • Arakawa - I/Deficient with CNSHA
chrX:154532083
Missing
 G
  • Buenos Aires - I/Deficient with CNSHA
chrX:154532085
Missing
 C
  • Campinas - I/Deficient with CNSHA
chrX:154532086
Missing
 C
  • Fukaya - I/Deficient with CNSHA
chrX:154532203 rs137852348
Missing
 G
  • Split - III/Deficient
chrX:154532231
Missing
 T
  • Laibin - Uncertain function
chrX:154532245 rs137852344
Missing
 G
  • Neapolis - III/Deficient
chrX:154532258
Missing
 G
  • Flores - II/Deficient
  • Kamiube, Keelung - III/Deficient
chrX:154532264 rs782608284
Missing
 C
  • Yunan - Uncertain function
chrX:154532265
Missing
 C
  • Nice - III/Deficient
chrX:154532278
Missing
 T
  • Amiens - I/Deficient with CNSHA
chrX:154532279
Missing
 C
  • Figuera da Foz - I/Deficient with CNSHA
chrX:154532389 rs137852324
Missing
 C
  • Andalus - II/Deficient
chrX:154532392
Missing
 A
  • Harima - I/Deficient with CNSHA
chrX:154532403
Missing
 C
  • Cassano - II/Deficient
  • Hermoupolis - II/Deficient
chrX:154532408
Missing
 T
  • S. Antioco - II/Deficient
chrX:154532411 rs137852317
Missing
 C
  • Santiago de Cuba, Morioka - I/Deficient with CNSHA
chrX:154532432
Missing
 G
  • Telti, Kobe - I/Deficient with CNSHA
chrX:154532434 rs137852337
Missing
 C
  • Pawnee - II/Deficient
chrX:154532458
Missing
 A
  • Sumare - I/Deficient with CNSHA
chrX:154532459 rs782098548
Missing
 C
  • Surabaya - II/Deficient
chrX:154532570
Missing
 G
  • Georgia - I/Deficient with CNSHA
chrX:154532590
Missing
 G
  • 202G>A_376A>G_1264C>G - I/Deficient with CNSHA
chrX:154532608
Missing
 C
  • Tokyo, Fukushima - I/Deficient with CNSHA
chrX:154532623
Missing
 T
  • Munich - I/Deficient with CNSHA
chrX:154532625 rs137852336
Missing
 C
  • Japan, Shinagawa - I/Deficient with CNSHA
  • Kawasaki - I/Deficient with CNSHA
chrX:154532626 rs137852323
Missing
 C
  • Riverside - I/Deficient with CNSHA
chrX:154532628
Missing
 G
  • Suwalki - I/Deficient with CNSHA
chrX:154532629
Missing
 G
  • Utrecht - I/Deficient with CNSHA
chrX:154532634
Missing
 T
  • Abeno - II/Deficient
chrX:154532639
Missing
 C
  • Clinic - I/Deficient with CNSHA
chrX:154532649
Missing
 G
  • Covao do Lobo - I/Deficient with CNSHA
chrX:154532661
Missing
 T
  • Anadia - II/Deficient
chrX:154532662 rs137852325
Missing
 C
  • Puerto Limon - I/Deficient with CNSHA
chrX:154532667
Missing
 G
  • Bari - I/Deficient with CNSHA
chrX:154532674 rs137852335
Missing
 C
  • Alhambra - I/Deficient with CNSHA
chrX:154532676 rs137852316
Missing
 C
  • Nashville, Anaheim, Portici - I/Deficient with CNSHA
chrX:154532677
Missing
 G
  • Wisconsin - I/Deficient with CNSHA
chrX:154532679
Missing
 A
  • Krakow - I/Deficient with CNSHA
chrX:154532688
Missing
 T
  • Praha - I/Deficient with CNSHA
chrX:154532692
Missing
 T
  • Hartford - I/Deficient with CNSHA
chrX:154532694 rs137852321
Missing
 C
  • Beverly Hills, Genova, Iwate, Niigata, Yamaguchi - I/Deficient with CNSHA
chrX:154532695 rs137852334
Missing
 G
  • Guadalajara - I/Deficient with CNSHA
  • Mt Sinai - I/Deficient with CNSHA
chrX:154532698 rs137852320
Missing
 T
  • Iowa, Walter Reed, Springfield - I/Deficient with CNSHA
chrX:154532699
Missing
 G
  • Madrid - I/Deficient with CNSHA
chrX:154532700
Missing
 C
  • Lynwood - I/Deficient with CNSHA
chrX:154532701 rs137852322
Missing
 A
  • Tomah - I/Deficient with CNSHA
chrX:154532713
Missing
 A
  • Olomouc - I/Deficient with CNSHA
chrX:154532715
Missing
 A
  • Riley - I/Deficient with CNSHA
chrX:154532716
Missing
 T
  • Calvo Mackenna - I/Deficient with CNSHA
chrX:154532722 rs371489738
Missing
 C
  • Montpellier - I/Deficient with CNSHA
chrX:154532752
Missing
 CGGCCTTGC
GCTCGTTCA
G
  • Tondela - I/Deficient with CNSHA
chrX:154532758
Missing
 T
  • Tenri - I/Deficient with CNSHA
chrX:154532765 rs137852329
Missing
 G
  • Aachen - I/Deficient with CNSHA
  • Loma Linda - I/Deficient with CNSHA
chrX:154532772 rs137852345
Missing
 G
  • Serres - I/Deficient with CNSHA
chrX:154532773
Missing
 C
  • Iwatsuki - I/Deficient with CNSHA
chrX:154532797 rs137852333
Missing
 G
  • Ierapetra - II/Deficient
chrX:154532802
Missing
 C
  • Partenope - II/Deficient
chrX:154532956 rs398123544
Missing
 T
  • Cincinnati - I/Deficient with CNSHA
chrX:154532987
Missing
 T
  • Torun - I/Deficient with CNSHA
chrX:154532989
Missing
 G
  • Fushan - II/Deficient
chrX:154532990 rs5030869
Missing
 C
  • Chatham - II/Deficient
chrX:154533004
Missing
 C
  • Insuli - IV/Normal
chrX:154533012
Missing
 CGTGGGGTC
GTCCAGGTA
CCCTTTG
  • Nara - I/Deficient with CNSHA
chrX:154533016
Missing
 G
  • Farroupilha - II/Deficient
chrX:154533029 rs137852347
Missing
 A
  • Rehevot - I/Deficient with CNSHA
chrX:154533031
Missing
 C
  • Manhattan - I/Deficient with CNSHA
chrX:154533064
Missing
 C
  • Ludhiana - II/Deficient
chrX:154533072
Missing
 C
  • Omiya - I/Deficient with CNSHA
chrX:154533077
Missing
 C
  • Seoul - II/Deficient
chrX:154533083
Missing
 C
  • West Virginia - I/Deficient with CNSHA
chrX:154533586 rs74575103
Missing
 C
  • Montalbano - III/Deficient
chrX:154533587
Missing
 G
  • Osaka - II/Deficient
chrX:154533589
Missing
 A
  • Piotrkow - I/Deficient with CNSHA
chrX:154533592
Missing
 T
  • Mizushima - II/Deficient
chrX:154533596 rs137852318
Missing
 C
  • Bajo Maumere - III/Deficient
  • Seattle, Lodi, Modena, Ferrara II, Athens-like - III/Deficient
chrX:154533605
Missing
 T
  • Chinese-1 - II/Deficient
  • Haikou - II/Deficient
chrX:154533607
Missing
 G
  • Wexham - I/Deficient with CNSHA
chrX:154533608
Missing
 A
  • La Jolla - I/Deficient with CNSHA
chrX:154533614
Missing
 G
  • Sugao - I/Deficient with CNSHA
chrX:154533615
Missing
 C
  • Bangkok - I/Deficient with CNSHA
chrX:154533619
Missing
 T
  • Lille - I/Deficient with CNSHA
chrX:154533620
Missing
 C
  • Cleveland Corum - I/Deficient with CNSHA
chrX:154533629
Missing
 C
  • Roubaix - II/Deficient
chrX:154533634 rs137852346
Missing
 C
  • Aveiro - I/Deficient with CNSHA
chrX:154534036
Missing
 G
  • Wayne - I/Deficient with CNSHA
chrX:154534074
Missing
 TCAGTGC
  • Stonybrook - I/Deficient with CNSHA
chrX:154534092
Missing
 T
  • Durham - I/Deficient with CNSHA
chrX:154534102 rs782757170
Missing
 G
  • Nanning - III/Deficient
chrX:154534110
Missing
 C
  • Asahikawa - I/Deficient with CNSHA
chrX:154534116
Missing
 ATGT
  • North Dallas - I/Deficient with CNSHA
chrX:154534125 rs137852328
Missing
 C
  • A- 680T_376G - III/Deficient
  • Mexico City - III/Deficient
chrX:154534126
Missing
 G
  • Radlowo - II/Deficient
chrX:154534157 rs137852319
Missing
 A
  • Harilaou - I/Deficient with CNSHA
chrX:154534345 rs137852326
Missing
 C
  • Cincinnati - I/Deficient with CNSHA
  • Minnesota, Marion, Gastonia, LeJeune - I/Deficient with CNSHA
chrX:154534389 rs137852332
Missing
 C
  • Nilgiri - II/Deficient
  • Santiago - I/Deficient with CNSHA
chrX:154534409
Missing
 G
  • Pedoplis-Ckaro - I/Deficient with CNSHA
chrX:154534414
Missing
 GGGA
  • Tsukui - I/Deficient with CNSHA
chrX:154534438 rs267606836
Missing
 G
  • Vancouver - I/Deficient with CNSHA
chrX:154534440 rs5030872
Missing
 T
  • Malaga - III/Deficient
  • Santa Maria - II/Deficient
chrX:154534447
Missing
 T
  • Chikugo - I/Deficient with CNSHA
chrX:154534455
Missing
 T
  • Shinshu - I/Deficient with CNSHA
chrX:154534465 rs137852343
Missing
 A
  • Nankang - II/Deficient
chrX:154534468
Missing
 G
  • Volendam - I/Deficient with CNSHA
chrX:154534485
Missing
 C
  • Naone - II/Deficient
chrX:154534486
Missing
 G
  • Toledo - II/Deficient
chrX:154534489 rs137852331
Missing
 T
  • Taipei, Chinese-3 - II/Deficient
chrX:154534494
Missing
 C
  • Plymouth - I/Deficient with CNSHA
chrX:154534495 rs137852314
Missing
 C
  • Mahidol - III/Deficient
chrX:154535180 rs782487723
Missing
 C
  • Shenzen - II/Deficient
chrX:154535190
Missing
 G
  • Acrokorinthos - II/Deficient
chrX:154535211
Missing
 C
  • Liuzhou - II/Deficient
chrX:154535244
Missing
 G
  • Belem - II/Deficient
chrX:154535247
Missing
 G
  • Valladolid - II/Deficient
chrX:154535249 rs782322505
Missing
 T
  • Cairo - II/Deficient
chrX:154535269
Missing
 G
  • Crispim - II/Deficient
chrX:154535270 rs78365220
Missing
 A
  • Crispim - II/Deficient
  • Salerno Pyrgos - III/Deficient
  • Vanua Lava - II/Deficient
chrX:154535274
Missing
 C
  • Crispim - II/Deficient
chrX:154535278
Missing
 C
  • Crispim - II/Deficient
chrX:154535301
Missing
 A
  • Bao Loc - II/Deficient
chrX:154535316 rs5030870
Missing
 C
  • Sao Borja - IV/Normal
chrX:154535330
Missing
 A
  • Hammersmith - III/Deficient
chrX:154535336 rs267606835
Missing
 G
  • Vancouver - I/Deficient with CNSHA
chrX:154535367
Missing
 GCTT
  • Urayasu - I/Deficient with CNSHA
chrX:154535379
Missing
 G
  • Guangzhou - III/Deficient
chrX:154535962 rs782308266
Missing
 C
  • Lagosanto - III/Deficient
chrX:154535963 rs138687036
Missing
 G
  • Ube Konan - III/Deficient
chrX:154535980
Missing
 A
  • Swansea - I/Deficient with CNSHA
chrX:154535995 rs782090947
Missing
 T
  • Murcia Oristano - III/Deficient
chrX:154535996 rs137852349
Missing
 A
  • Namouru - II/Deficient
chrX:154536008
Missing
 A
  • Songklanagarind - II/Deficient
chrX:154536019
Missing
 G
  • Amazonia - II/Deficient
  • Musashino - III/Deficient
chrX:154536021
Missing
 CAGA
  • Amsterdam - I/Deficient with CNSHA
chrX:154536025
Missing
 A
  • Costanzo - II/Deficient
chrX:154536032 rs137852315
Missing
 C
  • Metaponto - III/Deficient
chrX:154536034
Missing
 C
  • Palestrina - III/Deficient
chrX:154536035
Missing
 G
  • Kamogawa - II/Deficient
chrX:154536045
Missing
 C
  • Kozukata - I/Deficient with CNSHA
chrX:154536151
Missing
 G
  • Kambos - III/Deficient
chrX:154536156 rs76645461
Missing
 A
  • Aures - III/Deficient
chrX:154536169
Missing
 C
  • Rignano - III/Deficient
chrX:154546045 rs137852338
Missing
 CATG
  • Sunderland - I/Deficient with CNSHA
chrX:154546046
Missing
 A
  • Gidra - Uncertain function
chrX:154546057
Missing
 T
  • Honiara - I/Deficient with CNSHA
chrX:154546061 rs137852340
Missing
 T
  • Gaohe - III/Deficient
chrX:154546116
Missing
 C
  • Lages - III/Deficient
chrX:154546122
Missing
 C
  • Sinnai - III/Deficient
chrX:154546131
Missing
 G
  • No name - I/Deficient with CNSHA

HLA-A allele match data

Allele Reported: *01:01/*11:01
This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source.

HLA-B allele match data

Allele Reported: *08:01/*56:01
This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source.

IFNL3/4 allele match data

Allele Matched: rs12979860 reference (C)/rs12979860 variant (T)
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr19:39248147 rs12979860 C/T C
  • rs12979860 variant (T) - Unassigned

NAT2 allele match data

Allele Matched: *4/*5
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Alleles Not Considered:

The following alleles are not considered due to 31 missing positions of the total 47 positions: *42, *48, *51, *71

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

Unphased NAT2 variants resulted in multiple calls. PharmCAT is picking a single call based on frequency data. Please consult the documentation for details.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr8:18400032 rs72466456 T/T T
  • *45 - Uncertain function
  • *54 - Uncertain function
chr8:18400073 rs45477599 T/T T
  • *31 - Decreased function
chr8:18400194 rs1801279 G/G G
  • *14 - Decreased function
  • *15 - Decreased function
  • *29 - Decreased function
  • *46 - Decreased function
  • *47 - Decreased function
chr8:18400344 rs1801280 T/C T
  • *5 - Decreased function
  • *16 - Decreased function
  • *29 - Decreased function
  • *30 - Decreased function
  • *31 - Decreased function
  • *32 - Decreased function
  • *33 - Decreased function
  • *49 - Decreased function
  • *69 - Decreased function
  • *70 - Unassigned
  • *72 - Unassigned
  • *73 - Unassigned
  • *75 - Unassigned
chr8:18400406 rs12720065 C/C C
  • *36 - Decreased function
  • *44 - Uncertain function
chr8:18400475 rs139351995 A/A A
  • *33 - Decreased function
chr8:18400581 rs79050330 C/C C
  • *41 - Uncertain function
  • *49 - Decreased function
chr8:18400593 rs1799930 G/G G
  • *6 - Decreased function
  • *15 - Decreased function
  • *30 - Decreased function
  • *34 - Decreased function
  • *35 - Decreased function
  • *36 - Decreased function
  • *37 - Decreased function
  • *38 - Decreased function
  • *39 - Decreased function
  • *50 - Decreased function
  • *52 - Decreased function
  • *53 - Decreased function
  • *56 - Decreased function
  • *58 - Decreased function
  • *62 - Decreased function
  • *63 - Decreased function
  • *64 - Decreased function
  • *66 - Decreased function
  • *67 - Decreased function
chr8:18400612 rs45618543 G/G G
  • *43 - Uncertain function
chr8:18400616 rs45607939 A/A A
  • *65 - Unknown function
chr8:18400641 rs138707146 C/C C
  • *37 - Decreased function
chr8:18400686 rs45518335 C/C C
  • *47 - Decreased function
chr8:18400769 rs55700793 A/A A
  • *38 - Decreased function
chr8:18400806 rs1208 A/G G
  • *4 - Increased function
  • *6 - Decreased function
  • *7 - Decreased function
  • *10 - Uncertain function
  • *14 - Decreased function
  • *15 - Decreased function
  • *16 - Decreased function
  • *19 - Decreased function
  • *21 - Uncertain function
  • *27 - Uncertain function
  • *30 - Decreased function
  • *35 - Decreased function
  • *36 - Decreased function
  • *37 - Decreased function
  • *38 - Decreased function
  • *39 - Decreased function
  • *47 - Decreased function
  • *50 - Decreased function
  • *52 - Decreased function
  • *53 - Decreased function
  • *54 - Uncertain function
  • *55 - Unknown function
  • *56 - Decreased function
  • *57 - Unknown function
  • *58 - Decreased function
  • *59 - Decreased function
  • *60 - Unknown function
  • *61 - Unknown function
  • *62 - Decreased function
  • *63 - Decreased function
  • *64 - Decreased function
  • *65 - Unknown function
  • *66 - Decreased function
  • *67 - Decreased function
  • *68 - Decreased function
  • *74 - Unassigned
chr8:18400841 rs56393504 G/G G
  • *39 - Decreased function
chr8:18400860 rs1799931 G/G G
  • *7 - Decreased function
  • *40 - Decreased function
  • *59 - Decreased function
  • *68 - Decreased function
chr8:18400010 rs200893121
Missing
 A
  • *50 - Decreased function
chr8:18400054 rs201339185
Missing
 C
  • *55 - Unknown function
chr8:18400061 rs532310930
Missing
 G
  • *56 - Decreased function
chr8:18400070 rs1464413878
Missing
 A
  • *72 - Unassigned
chr8:18400124 rs149283608
Missing
 A
  • *51 - Uncertain function
chr8:18400155 rs72466457
Missing
 G
  • *35 - Decreased function
chr8:18400193 rs1805158
Missing
 C
  • *19 - Decreased function
chr8:18400206 rs72466458
Missing
 G
  • *32 - Decreased function
chr8:18400251 rs561124342
Missing
 G
  • *53 - Decreased function
chr8:18400267 rs2535896050
Missing
 G
  • *75 - Unassigned
chr8:18400324 rs549917500
Missing
 C
  • *57 - Unknown function
chr8:18400349 rs183409091
Missing
 G
  • *58 - Decreased function
chr8:18400367 rs4986996
Missing
 G
  • *48 - Decreased function
chr8:18400461 rs72466460
Missing
 C
  • *21 - Uncertain function
chr8:18400478 rs537007806
Missing
 T
  • *59 - Decreased function
chr8:18400494 rs139512288
Missing
 T
  • *60 - Unknown function
chr8:18400502 rs72554617
Missing
 G
  • *10 - Uncertain function
chr8:18400509 rs200585149
Missing
 A
  • *61 - Unknown function
chr8:18400521 rs369500066
Missing
 A
  • *52 - Decreased function
chr8:18400539 rs572750517
Missing
 A
  • *62 - Decreased function
chr8:18400583 rs774002627
Missing
 C
  • *68 - Decreased function
chr8:18400592 rs375746304
Missing
 C
  • *27 - Uncertain function
  • *69 - Decreased function
chr8:18400599 rs761741098
Missing
 T
  • *70 - Unassigned
chr8:18400625 rs56387565
Missing
 T
  • *42 - Uncertain function
chr8:18400653 rs568110818
Missing
 T
  • *63 - Decreased function
chr8:18400685 rs150329557
Missing
 C
  • *66 - Decreased function
chr8:18400707 rs756616433
Missing
 T
  • *71 - Unassigned
chr8:18400799 rs539346244
Missing
 G
  • *64 - Decreased function
chr8:18400805 rs910738034
Missing
 A
  • *73 - Unassigned
chr8:18400826 rs148566670
Missing
 T
  • *67 - Decreased function
chr8:18400848 rs56054745
Missing
 A
  • *74 - Unassigned

NUDT15 allele match data

Allele Matched: *1/*1
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Alleles Not Considered:

The following alleles are not considered due to 14 missing positions of the total 18 positions: *7, *8, *10, *11, *12, *13, *14, *15, *16, *17, *18, *19, *20, *21

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

The NUDT15 *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions either because the position is reference or missing.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr13:48037782 rs746071566 AGGAGTC/
AGGAGTC		 AGGAGTC
  • *2 - No function
  • *6 - Uncertain function
  • *9 - No function
chr13:48037798 rs186364861 G/G G
  • *5 - Uncertain function
chr13:48045719 rs116855232 C/C C
  • *2 - No function
  • *3 - No function
chr13:48045720 rs147390019 G/G G
  • *4 - Uncertain function
chr13:48037748 rs769369441
Missing
 T
  • *10 - Unassigned
chr13:48037749
Missing
 G
  • *19 - Unassigned
chr13:48037825 rs777311140
Missing
 C
  • *14 - Unassigned
chr13:48037834 rs1202487323
Missing
 C
  • *16 - Unassigned
chr13:48037847 rs766023281
Missing
 G
  • *7 - Uncertain function
chr13:48037849
Missing
 A
  • *8 - Uncertain function
chr13:48037885 rs1950545307
Missing
 G
  • *11 - Unassigned
chr13:48037902 rs149436418
Missing
 C
  • *12 - Unassigned
chr13:48040977 rs1457579126
Missing
 GA
  • *18 - Unassigned
chr13:48041103 rs761191455
Missing
 T
  • *13 - Unassigned
chr13:48041113 rs1368252918
Missing
 G
  • *17 - Unassigned
chr13:48045690 rs768324690
Missing
 C
  • *20 - Unassigned
chr13:48045714 rs1185228044
Missing
 G
  • *21 - Unassigned
chr13:48045771 rs139551410
Missing
 T
  • *15 - Unassigned

RYR1 allele match data

Allele Matched: Reference/Reference
Phasing Status:

Unphased

Alleles Not Considered:

The following alleles are not considered due to 289 missing positions of the total 313 positions: c.38T>G, c.51_53del, c.97A>G, c.103T>C, c.119G>C, c.130C>T, c.131G>A, c.152C>A, c.178G>A, c.178G>T, c.190T>C, c.212C>A, c.251C>T, c.418G>A, c.455C>A, c.463C>A, c.467G>A, c.479A>G, c.487C>T, c.488G>A, c.488G>T, c.493G>A, c.496G>A, c.497A>G, c.526G>A, c.528G>T, c.529C>T, c.533A>C, c.533A>G, c.625G>A, c.641C>T, c.652G>A, c.677T>A, c.680A>T, c.742G>A, c.742G>C, c.946C>T, c.947G>T, c.982C>T, c.992_994dup, c.1021G>A, c.1021G>C, c.1024G>A, c.1100G>A, c.1100G>T, c.1144C>A, c.1201C>A, c.1201C>G, c.1201C>T, c.1202G>A, c.1202G>T, c.1209C>G, c.1411C>T, c.1422G>T, c.1459C>G, c.1460T>C, c.1475G>A, c.1553T>C, c.1565A>C, c.1565A>G, c.1589G>A, c.1597C>A, c.1597C>T, c.1598G>A, c.1615T>C, c.1615T>G, c.1630G>T, c.1654C>T, c.1834G>C, c.1840C>T, c.1841G>T, c.2050G>C, c.2122G>A, c.2447C>T, c.2537C>T, c.2924G>A, c.2996G>A, c.3095G>A, c.3127C>T, c.3166G>A, c.3166G>C, c.3172G>A, c.3224G>A, c.3418C>T, c.3656A>C, c.3667G>A, c.4400A>G, c.4747C>T, c.4763C>T, c.4775C>T, c.5024T>C, c.5033A>G, c.5132A>G, c.5183C>T, c.5186T>G, c.5341T>C, c.5440A>G, c.5441T>A, c.5890C>T, c.6037A>C, c.6302T>A, c.6304G>C, c.6349G>C, c.6377G>A, c.6388G>A, c.6478G>A, c.6487C>T, c.6488G>A, c.6488G>C, c.6488G>T, c.6502G>A, c.6544A>T, c.6548G>A, c.6599C>T, c.6617C>G, c.6617C>T, c.6628G>T, c.6635T>A, c.6640G>A, c.6670C>T, c.6671G>A, c.6710G>A, c.6742C>T, c.6743G>A, c.6757C>T, c.6838G>A, c.6847A>C, c.7007G>A, c.7018T>C, c.7032G>C, c.7035C>A, c.7036G>A, c.7042_7044delGAG, c.7043A>G, c.7048G>A, c.7060G>A, c.7063C>T, c.7073T>A, c.7075C>T, c.7076G>A, c.7084G>A, c.7085A>G, c.7090T>G, c.7097C>G, c.7099G>A, c.7112A>G, c.7123G>A, c.7124G>C, c.7199A>G, c.7210G>A, c.7282G>A, c.7291G>A, c.7291G>T, c.7292A>T, c.7300G>A, c.7304G>A, c.7304G>T, c.7307G>A, c.7310C>T, c.7317G>C, c.7354C>T, c.7355G>A, c.7355G>C, c.7358T>C, c.7360C>T, c.7361G>A, c.7372C>T, c.7373G>A, c.7373G>T, c.7385C>T, c.7487C>T, c.7522C>G, c.7522C>T, c.7523G>A, c.7528T>C, c.7760A>G, c.7771C>G, c.7771C>T, c.7777C>G, c.7778G>A, c.7787C>T, c.7816T>A, c.7879G>A, c.7879G>C, c.8005G>A, c.8026C>T, c.8054C>T, c.8188G>C, c.8189A>G, c.8198G>A, c.8290G>A, c.8327C>T, c.8518C>T, c.8527T>C, c.8600T>A, c.8638G>A, c.8654C>G, c.8729C>T, c.8926C>T, c.9152G>A, c.9268G>A, c.9310G>A, c.9356G>A, c.9499C>T, c.9635A>G, c.9649T>C, c.9652G>A, c.9676G>C, c.9758T>C, c.9797T>C, c.9848G>A, c.9850T>A, c.9868G>A, c.10042C>T, c.10043G>A, c.10100A>G, c.10229C>A, c.10237A>T, c.10252A>G, c.10556C>T, c.10750G>C, c.10891G>T, c.11086G>C, c.11120G>T, c.11126C>T, c.11132C>T, c.11314C>T, c.11315G>A, c.11416G>A, c.11518G>A, c.11708G>A, c.11723A>T, c.11748T>G, c.11813G>A, c.11947C>T, c.11953T>C, c.11958C>G, c.11969G>T, c.12028G>A, c.12064A>G, c.12115A>T, c.12121C>T, c.12149C>A, c.12242C>T, c.12310G>C, c.12355A>T, c.12383C>T, c.12398A>G, c.12406C>A, c.12413T>C, c.12532G>A, c.12533G>T, c.12689T>G, c.12700G>C, c.12700G>T, c.12848A>T, c.12881C>T, c.12884C>T, c.13505A>G, c.13672C>T, c.13673G>A, c.13702C>G, c.13760C>T, c.13913G>A, c.13918A>G, c.13934G>A, c.13990T>C, c.13994_13995delTCinsCT, c.14002C>T, c.14051T>C, c.14126C>T, c.14168G>A, c.14186A>C, c.14197T>G, c.14201G>A, c.14209C>T, c.14210G>A, c.14270G>A, c.14364+1G>T, c.14387A>G, c.14422_14423delinsAA, c.14424C>A, c.14449A>T, c.14458G>A, c.14458G>T, c.14471T>C, c.14477C>T, c.14497C>T, c.14509C>G, c.14512C>G, c.14524G>A, c.14539G>C, c.14545G>A, c.14558C>T, c.14567C>G, c.14581C>T, c.14582G>A, c.14627A>G, c.14639T>C, c.14678G>A, c.14680G>A, c.14693T>C, c.14782A>G, c.14803G>A, c.14813T>C, c.14814C>G, c.14817C>A, c.14818G>A, c.14825G>T, c.14879T>A, c.14918C>T, c.14968A>G, c.15059G>C, c.15060G>C

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

The RYR1 Reference allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions either because the position is reference or missing.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr19:38455247 rs147723844 A/A A
  • c.1453A>G - Uncertain function
chr19:38463499 rs370634440 G/G G
  • c.2654G>A - Uncertain function
chr19:38464649 rs148623597 G/G G
  • c.2797G>A - Normal function
chr19:38469111 rs549201486 C/C C
  • c.3527C>T - Uncertain function
chr19:38473635 rs34694816 A/A A
  • c.4024A>G - Normal function
chr19:38475335 rs137933390 A/A A
  • c.4178A>G - Normal function
chr19:38483293 rs146429605 A/A A
  • c.4711A>G - Normal function
chr19:38485691 rs146504767 G/G G
  • c.5036G>A - Normal function
chr19:38485972 rs192863857 C/C C
  • c.5317C>T - Normal function
chr19:38486015 rs34934920 C/C C
  • c.5360C>T - Normal function
chr19:38492540 rs35364374 G/G G
  • c.6178G>T - Normal function
chr19:38494464 rs117886618 C/C C
  • c.6387C>G - Malignant Hyperthermia associated
chr19:38496278 rs141646642 C/C C
  • c.6612C>G - Malignant Hyperthermia associated
chr19:38499177 rs34390345 A/A A
  • c.6961A>G - Normal function
chr19:38499241 rs147213895 A/A A
  • c.7025A>G - Normal function
chr19:38499696 C/C C
  • c.7089C>G - Uncertain function
chr19:38505358 rs35180584 C/C C
  • c.8360C>G - Normal function
chr19:38519292 rs137932199 G/G G
  • c.10097G>A - Normal function
chr19:38525492 rs143987857 G/G G
  • c.10616G>A - Normal function
chr19:38527707 rs55876273 G/G G
  • c.10747G>C - Normal function
chr19:38534726 rs4802584 C/C C
  • c.11266C>G - Normal function
chr19:38543551 rs147136339 A/A A
  • c.11798A>G - Normal function
chr19:38561383 rs151119428 G/G G
  • c.12553G>A - Uncertain function
chr19:38566986 rs150396398 G/G G
  • c.13513G>C - Normal function
chr19:38433867 rs193922744
Missing
 T
  • c.38T>G - Malignant Hyperthermia associated
chr19:38440747 rs193922745
Missing
 CGAT
  • c.51_53del - Uncertain function
chr19:38440796 rs193922746
Missing
 A
  • c.97A>G - Malignant Hyperthermia associated
chr19:38440802 rs193922747
Missing
 T
  • c.103T>C - Malignant Hyperthermia associated
chr19:38440818
Missing
 G
  • c.119G>C - Uncertain function
chr19:38440829 rs193922748
Missing
 C
  • c.130C>T - Malignant Hyperthermia associated
chr19:38440830 rs139161723
Missing
 G
  • c.131G>A - Uncertain function
chr19:38440851 rs193922749
Missing
 C
  • c.152C>A - Uncertain function
chr19:38442361 rs118192160
Missing
 G
  • c.178G>A - Uncertain function
  • c.178G>T - Uncertain function
chr19:38442373 rs995399438
Missing
 T
  • c.190T>C - Uncertain function
chr19:38442395 rs118192113
Missing
 C
  • c.212C>A - Uncertain function
chr19:38442434 rs186983396
Missing
 C
  • c.251C>T - Uncertain function
chr19:38443790 rs142474192
Missing
 G
  • c.418G>A - Normal function
chr19:38444179
Missing
 C
  • c.455C>A - Uncertain function
chr19:38444187 rs193922750
Missing
 C
  • c.463C>A - Malignant Hyperthermia associated
chr19:38444191 rs193922751
Missing
 G
  • c.467G>A - Uncertain function
chr19:38444203 rs193922752
Missing
 A
  • c.479A>G - Uncertain function
chr19:38444211 rs118192161
Missing
 C
  • c.487C>T - Malignant Hyperthermia associated
chr19:38444212 rs193922753
Missing
 G
  • c.488G>A - Uncertain function
  • c.488G>T - Malignant Hyperthermia associated
chr19:38444217 rs193922754
Missing
 G
  • c.493G>A - Uncertain function
chr19:38444220 rs193922755
Missing
 G
  • c.496G>A - Uncertain function
chr19:38444221 rs193922756
Missing
 A
  • c.497A>G - Uncertain function
chr19:38444250 rs761616815
Missing
 G
  • c.526G>A - Uncertain function
chr19:38444252
Missing
 G
  • c.528G>T - Uncertain function
chr19:38444253 rs193922757
Missing
 C
  • c.529C>T - Malignant Hyperthermia associated
chr19:38444257
Missing
 A
  • c.533A>C - Uncertain function
  • c.533A>G - Malignant Hyperthermia associated
chr19:38444671 rs771058055
Missing
 G
  • c.625G>A - Uncertain function
chr19:38446481 rs727504129
Missing
 C
  • c.641C>T - Uncertain function
chr19:38446492 rs193922759
Missing
 G
  • c.652G>A - Uncertain function
chr19:38446517 rs112596687
Missing
 T
  • c.677T>A - Uncertain function
chr19:38446520 rs193922760
Missing
 A
  • c.680A>T - Uncertain function
chr19:38446710 rs1801086
Missing
 G
  • c.742G>A - Malignant Hyperthermia associated
  • c.742G>C - Malignant Hyperthermia associated
chr19:38448500 rs752652072
Missing
 C
  • c.946C>T - Uncertain function
chr19:38448501 rs193922761
Missing
 G
  • c.947G>T - Uncertain function
chr19:38448673 rs193922762
Missing
 C
  • c.982C>T - Malignant Hyperthermia associated
chr19:38448680
Missing
 T
  • c.992_994dup - Uncertain function
chr19:38448712 rs121918592
Missing
 G
  • c.1021G>A - Malignant Hyperthermia associated
  • c.1021G>C - Malignant Hyperthermia associated
chr19:38448715
Missing
 G
  • c.1024G>A - Uncertain function
chr19:38448791 rs113332073
Missing
 G
  • c.1100G>A - Uncertain function
  • c.1100G>T - Uncertain function
chr19:38451785
Missing
 C
  • c.1144C>A - Uncertain function
chr19:38451842 rs193922764
Missing
 C
  • c.1201C>A - Uncertain function
  • c.1201C>G - Uncertain function
  • c.1201C>T - Malignant Hyperthermia associated
chr19:38451843 rs193922766
Missing
 G
  • c.1202G>A - Malignant Hyperthermia associated
  • c.1202G>T - Malignant Hyperthermia associated
chr19:38451850 rs118192116
Missing
 C
  • c.1209C>G - Uncertain function
chr19:38452985
Missing
 C
  • c.1411C>T - Uncertain function
chr19:38452996 rs193922767
Missing
 G
  • c.1422G>T - Uncertain function
chr19:38455253
Missing
 C
  • c.1459C>G - Uncertain function
chr19:38455254
Missing
 T
  • c.1460T>C - Uncertain function
chr19:38455269 rs901087791
Missing
 G
  • c.1475G>A - Uncertain function
chr19:38455347
Missing
 T
  • c.1553T>C - Uncertain function
chr19:38455359 rs118192162
Missing
 A
  • c.1565A>C - Malignant Hyperthermia associated
  • c.1565A>G - Malignant Hyperthermia associated
chr19:38455463 rs111888148
Missing
 G
  • c.1589G>A - Malignant Hyperthermia associated
chr19:38455471 rs193922768
Missing
 C
  • c.1597C>A - Uncertain function
  • c.1597C>T - Malignant Hyperthermia associated
chr19:38455472 rs144336148
Missing
 G
  • c.1598G>A - Uncertain function
chr19:38455489 rs193922769
Missing
 T
  • c.1615T>C - Malignant Hyperthermia associated
  • c.1615T>G - Malignant Hyperthermia associated
chr19:38455504
Missing
 G
  • c.1630G>T - Malignant Hyperthermia associated
chr19:38455528 rs193922770
Missing
 C
  • c.1654C>T - Malignant Hyperthermia associated
chr19:38457539 rs118204423
Missing
 G
  • c.1834G>C - Uncertain function
chr19:38457545 rs118192172
Missing
 C
  • c.1840C>T - Malignant Hyperthermia associated
chr19:38457546 rs193922772
Missing
 G
  • c.1841G>T - Malignant Hyperthermia associated
chr19:38458175 rs747177274
Missing
 G
  • c.2050G>C - Uncertain function
chr19:38458247 rs138874610
Missing
 G
  • c.2122G>A - Uncertain function
chr19:38460461 rs376149732
Missing
 C
  • c.2447C>T - Normal function
chr19:38460551 rs193922775
Missing
 C
  • c.2537C>T - Uncertain function
chr19:38466144 rs778241277
Missing
 G
  • c.2924G>A - Uncertain function
chr19:38466216 rs180714609
Missing
 G
  • c.2996G>A - Uncertain function
chr19:38466315 rs141942845
Missing
 G
  • c.3095G>A - Uncertain function
chr19:38466347 rs111272095
Missing
 C
  • c.3127C>T - Uncertain function
chr19:38466386 rs2145447772
Missing
 G
  • c.3166G>A - Uncertain function
  • c.3166G>C - Malignant Hyperthermia associated
chr19:38466392
Missing
 G
  • c.3172G>A - Uncertain function
chr19:38467655 rs749040743
Missing
 G
  • c.3224G>A - Normal function
chr19:38469002 rs193922776
Missing
 C
  • c.3418C>T - Uncertain function
chr19:38469404
Missing
 A
  • c.3656A>C - Uncertain function
chr19:38469415 rs936513262
Missing
 G
  • c.3667G>A - Uncertain function
chr19:38477816 rs145573319
Missing
 A
  • c.4400A>G - Uncertain function
chr19:38483329 rs754476250
Missing
 C
  • c.4747C>T - Uncertain function
chr19:38483345 rs151029675
Missing
 C
  • c.4763C>T - Uncertain function
chr19:38483357 rs193922777
Missing
 C
  • c.4775C>T - Uncertain function
chr19:38485679
Missing
 T
  • c.5024T>C - Uncertain function
chr19:38485688 rs781104539
Missing
 A
  • c.5033A>G - Uncertain function
chr19:38485787 rs754785770
Missing
 A
  • c.5132A>G - Uncertain function
chr19:38485838 rs193922781
Missing
 C
  • c.5183C>T - Malignant Hyperthermia associated
chr19:38485841 rs193922782
Missing
 T
  • c.5186T>G - Uncertain function
chr19:38485996 rs372958050
Missing
 T
  • c.5341T>C - Uncertain function
chr19:38486095
Missing
 A
  • c.5440A>G - Uncertain function
chr19:38486096 rs193922783
Missing
 T
  • c.5441T>A - Uncertain function
chr19:38490151 rs145801146
Missing
 C
  • c.5890C>T - Uncertain function
chr19:38490642
Missing
 A
  • c.6037A>C - Uncertain function
chr19:38494379 rs746818096
Missing
 T
  • c.6302T>A - Uncertain function
chr19:38494381 rs770593660
Missing
 G
  • c.6304G>C - Uncertain function
chr19:38494426 rs193922788
Missing
 G
  • c.6349G>C - Malignant Hyperthermia associated
chr19:38494454
Missing
 G
  • c.6377G>A - Uncertain function
chr19:38494465 rs193922789
Missing
 G
  • c.6388G>A - Uncertain function
chr19:38494555 rs143398211
Missing
 G
  • c.6478G>A - Uncertain function
chr19:38494564 rs118192175
Missing
 C
  • c.6487C>T - Malignant Hyperthermia associated
chr19:38494565 rs118192163
Missing
 G
  • c.6488G>A - Malignant Hyperthermia associated
  • c.6488G>C - Malignant Hyperthermia associated
  • c.6488G>T - Malignant Hyperthermia associated
chr19:38494579 rs118192176
Missing
 G
  • c.6502G>A - Malignant Hyperthermia associated
chr19:38494621 rs193922790
Missing
 A
  • c.6544A>T - Uncertain function
chr19:38494625 rs959170123
Missing
 G
  • c.6548G>A - Uncertain function
chr19:38496265 rs193922791
Missing
 C
  • c.6599C>T - Uncertain function
chr19:38496283 rs118192177
Missing
 C
  • c.6617C>G - Malignant Hyperthermia associated
  • c.6617C>T - Malignant Hyperthermia associated
chr19:38496294 rs193922792
Missing
 G
  • c.6628G>T - Malignant Hyperthermia associated
chr19:38496301 rs193922793
Missing
 T
  • c.6635T>A - Uncertain function
chr19:38496306 rs193922795
Missing
 G
  • c.6640G>A - Uncertain function
chr19:38496415 rs199870223
Missing
 C
  • c.6670C>T - Normal function
chr19:38496416 rs537994744
Missing
 G
  • c.6671G>A - Uncertain function
chr19:38496455
Missing
 G
  • c.6710G>A - Uncertain function
chr19:38496487 rs763352221
Missing
 C
  • c.6742C>T - Uncertain function
chr19:38496488 rs140152019
Missing
 G
  • c.6743G>A - Uncertain function
chr19:38496502 rs917523269
Missing
 C
  • c.6757C>T - Uncertain function
chr19:38496901 rs193922797
Missing
 G
  • c.6838G>A - Malignant Hyperthermia associated
chr19:38496910 rs118192121
Missing
 A
  • c.6847A>C - Uncertain function
chr19:38499223 rs112563513
Missing
 G
  • c.7007G>A - Malignant Hyperthermia associated
chr19:38499234
Missing
 T
  • c.7018T>C - Uncertain function
chr19:38499639 rs193922798
Missing
 G
  • c.7032G>C - Uncertain function
chr19:38499642
Missing
 C
  • c.7035C>A - Malignant Hyperthermia associated
chr19:38499643 rs193922799
Missing
 G
  • c.7036G>A - Malignant Hyperthermia associated
chr19:38499644 rs121918596
Missing
 TGGA
  • c.7042_7044delGAG - Malignant Hyperthermia associated
chr19:38499650 rs193922801
Missing
 A
  • c.7043A>G - Malignant Hyperthermia associated
chr19:38499655 rs193922802
Missing
 G
  • c.7048G>A - Malignant Hyperthermia associated
chr19:38499667
Missing
 G
  • c.7060G>A - Malignant Hyperthermia associated
chr19:38499670 rs193922803
Missing
 C
  • c.7063C>T - Malignant Hyperthermia associated
chr19:38499680
Missing
 T
  • c.7073T>A - Uncertain function
chr19:38499682 rs769482889
Missing
 C
  • c.7075C>T - Uncertain function
chr19:38499683
Missing
 G
  • c.7076G>A - Malignant Hyperthermia associated
chr19:38499691 rs762401851
Missing
 G
  • c.7084G>A - Malignant Hyperthermia associated
chr19:38499692 rs193922804
Missing
 A
  • c.7085A>G - Uncertain function
chr19:38499697 rs193922805
Missing
 T
  • c.7090T>G - Malignant Hyperthermia associated
chr19:38499704 rs193922806
Missing
 C
  • c.7097C>G - Uncertain function
chr19:38499706 rs146306934
Missing
 G
  • c.7099G>A - Uncertain function
chr19:38499719
Missing
 A
  • c.7112A>G - Uncertain function
chr19:38499730
Missing
 G
  • c.7123G>A - Malignant Hyperthermia associated
chr19:38499731 rs193922807
Missing
 G
  • c.7124G>C - Malignant Hyperthermia associated
chr19:38499806 rs976108591
Missing
 A
  • c.7199A>G - Uncertain function
chr19:38499817 rs111364296
Missing
 G
  • c.7210G>A - Uncertain function
chr19:38499975 rs193922809
Missing
 G
  • c.7282G>A - Malignant Hyperthermia associated
chr19:38499984 rs193922810
Missing
 G
  • c.7291G>A - Malignant Hyperthermia associated
  • c.7291G>T - Malignant Hyperthermia associated
chr19:38499985
Missing
 A
  • c.7292A>T - Uncertain function
chr19:38499993 rs121918593
Missing
 G
  • c.7300G>A - Malignant Hyperthermia associated
chr19:38499997 rs28933396
Missing
 G
  • c.7304G>A - Malignant Hyperthermia associated
  • c.7304G>T - Malignant Hyperthermia associated
chr19:38500000
Missing
 G
  • c.7307G>A - Uncertain function
chr19:38500003 rs193922812
Missing
 C
  • c.7310C>T - Malignant Hyperthermia associated
chr19:38500010 rs193922813
Missing
 G
  • c.7317G>C - Uncertain function
chr19:38500636 rs118192124
Missing
 C
  • c.7354C>T - Malignant Hyperthermia associated
chr19:38500637 rs193922815
Missing
 G
  • c.7355G>A - Uncertain function
  • c.7355G>C - Uncertain function
chr19:38500640 rs118192123
Missing
 T
  • c.7358T>C - Malignant Hyperthermia associated
chr19:38500642 rs193922816
Missing
 C
  • c.7360C>T - Malignant Hyperthermia associated
chr19:38500643 rs118192122
Missing
 G
  • c.7361G>A - Malignant Hyperthermia associated
chr19:38500654 rs28933397
Missing
 C
  • c.7372C>T - Malignant Hyperthermia associated
chr19:38500655 rs121918594
Missing
 G
  • c.7373G>A - Malignant Hyperthermia associated
  • c.7373G>T - Malignant Hyperthermia associated
chr19:38500667 rs551223467
Missing
 C
  • c.7385C>T - Uncertain function
chr19:38500863 rs193922817
Missing
 C
  • c.7487C>T - Uncertain function
chr19:38500898 rs118192178
Missing
 C
  • c.7522C>G - Uncertain function
  • c.7522C>T - Malignant Hyperthermia associated
chr19:38500899 rs193922818
Missing
 G
  • c.7523G>A - Malignant Hyperthermia associated
chr19:38500904 rs193922819
Missing
 T
  • c.7528T>C - Uncertain function
chr19:38502652 rs767553612
Missing
 A
  • c.7760A>G - Uncertain function
chr19:38502663 rs193922822
Missing
 C
  • c.7771C>G - Uncertain function
  • c.7771C>T - Uncertain function
chr19:38502669
Missing
 C
  • c.7777C>G - Uncertain function
chr19:38502670 rs751180702
Missing
 G
  • c.7778G>A - Uncertain function
chr19:38502679 rs193922824
Missing
 C
  • c.7787C>T - Uncertain function
chr19:38502708 rs748575133
Missing
 T
  • c.7816T>A - Normal function
chr19:38502923 rs914804033
Missing
 G
  • c.7879G>A - Uncertain function
  • c.7879G>C - Malignant Hyperthermia associated
chr19:38504298
Missing
 G
  • c.8005G>A - Uncertain function
chr19:38504319 rs193922826
Missing
 C
  • c.8026C>T - Malignant Hyperthermia associated
chr19:38504347 rs781126470
Missing
 C
  • c.8054C>T - Uncertain function
chr19:38504868 rs193922827
Missing
 G
  • c.8188G>C - Uncertain function
chr19:38504869 rs112196644
Missing
 A
  • c.8189A>G - Uncertain function
chr19:38504878 rs193922828
Missing
 G
  • c.8198G>A - Uncertain function
chr19:38505061 rs193922829
Missing
 G
  • c.8290G>A - Uncertain function
chr19:38505325 rs147707463
Missing
 C
  • c.8327C>T - Normal function
chr19:38505923 rs193922830
Missing
 C
  • c.8518C>T - Uncertain function
chr19:38505932 rs768535909
Missing
 T
  • c.8527T>C - Uncertain function
chr19:38506361 rs193922831
Missing
 T
  • c.8600T>A - Uncertain function
chr19:38506492 rs112772310
Missing
 G
  • c.8638G>A - Uncertain function
chr19:38506508
Missing
 C
  • c.8654C>G - Uncertain function
chr19:38506865
Missing
 C
  • c.8729C>T - Uncertain function
chr19:38507821
Missing
 C
  • c.8926C>T - Uncertain function
chr19:38511590 rs147303895
Missing
 G
  • c.9152G>A - Uncertain function
chr19:38512279
Missing
 G
  • c.9268G>A - Uncertain function
chr19:38512321 rs193922832
Missing
 G
  • c.9310G>A - Malignant Hyperthermia associated
chr19:38512367 rs193922833
Missing
 G
  • c.9356G>A - Uncertain function
chr19:38515052
Missing
 C
  • c.9499C>T - Uncertain function
chr19:38516167 rs199738299
Missing
 A
  • c.9635A>G - Uncertain function
chr19:38516181
Missing
 T
  • c.9649T>C - Uncertain function
chr19:38516184 rs553055844
Missing
 G
  • c.9652G>A - Uncertain function
chr19:38516208
Missing
 G
  • c.9676G>C - Uncertain function
chr19:38517431 rs375626634
Missing
 T
  • c.9758T>C - Uncertain function
chr19:38517470
Missing
 T
  • c.9797T>C - Uncertain function
chr19:38517521 rs757753317
Missing
 G
  • c.9848G>A - Uncertain function
chr19:38517523
Missing
 T
  • c.9850T>A - Uncertain function
chr19:38517541 rs112151058
Missing
 G
  • c.9868G>A - Uncertain function
chr19:38519237 rs118204421
Missing
 C
  • c.10042C>T - Uncertain function
chr19:38519238 rs193922834
Missing
 G
  • c.10043G>A - Uncertain function
chr19:38519295 rs118192126
Missing
 A
  • c.10100A>G - Normal function
chr19:38519424
Missing
 C
  • c.10229C>A - Uncertain function
chr19:38519432
Missing
 A
  • c.10237A>T - Uncertain function
chr19:38519447
Missing
 A
  • c.10252A>G - Uncertain function
chr19:38525432
Missing
 C
  • c.10556C>T - Uncertain function
chr19:38527710
Missing
 G
  • c.10750G>C - Uncertain function
chr19:38528372
Missing
 G
  • c.10891G>T - Uncertain function
chr19:38529002
Missing
 G
  • c.11086G>C - Uncertain function
chr19:38529036 rs193922838
Missing
 G
  • c.11120G>T - Uncertain function
chr19:38529042
Missing
 C
  • c.11126C>T - Uncertain function
chr19:38529048 rs375915752
Missing
 C
  • c.11132C>T - Uncertain function
chr19:38534774 rs763112609
Missing
 C
  • c.11314C>T - Uncertain function
chr19:38534775 rs193922839
Missing
 G
  • c.11315G>A - Malignant Hyperthermia associated
chr19:38535197 rs111565359
Missing
 G
  • c.11416G>A - Uncertain function
chr19:38535998 rs140616359
Missing
 G
  • c.11518G>A - Uncertain function
chr19:38543365 rs148399313
Missing
 G
  • c.11708G>A - Malignant Hyperthermia associated
chr19:38543380
Missing
 A
  • c.11723A>T - Uncertain function
chr19:38543405 rs193922840
Missing
 T
  • c.11748T>G - Uncertain function
chr19:38543566
Missing
 G
  • c.11813G>A - Uncertain function
chr19:38543810
Missing
 C
  • c.11947C>T - Uncertain function
chr19:38543816 rs118204422
Missing
 T
  • c.11953T>C - Uncertain function
chr19:38543821 rs193922842
Missing
 C
  • c.11958C>G - Uncertain function
chr19:38543832 rs193922843
Missing
 G
  • c.11969G>T - Malignant Hyperthermia associated
chr19:38546460 rs755088027
Missing
 G
  • c.12028G>A - Uncertain function
chr19:38546496 rs773040531
Missing
 A
  • c.12064A>G - Uncertain function
chr19:38548253
Missing
 A
  • c.12115A>T - Uncertain function
chr19:38548259 rs144685735
Missing
 C
  • c.12121C>T - Uncertain function
chr19:38548287 rs193922844
Missing
 C
  • c.12149C>A - Malignant Hyperthermia associated
chr19:38548380 rs373406011
Missing
 C
  • c.12242C>T - Uncertain function
chr19:38561140
Missing
 G
  • c.12310G>C - Normal function
chr19:38561185 rs193922848
Missing
 A
  • c.12355A>T - Uncertain function
chr19:38561213
Missing
 C
  • c.12383C>T - Uncertain function
chr19:38561228 rs201321695
Missing
 A
  • c.12398A>G - Uncertain function
chr19:38561236 rs193922849
Missing
 C
  • c.12406C>A - Normal function
chr19:38561243 rs193922850
Missing
 T
  • c.12413T>C - Uncertain function
chr19:38561362
Missing
 G
  • c.12532G>A - Uncertain function
chr19:38561363
Missing
 G
  • c.12533G>T - Uncertain function
chr19:38565023
Missing
 T
  • c.12689T>G - Uncertain function
chr19:38565034 rs193922852
Missing
 G
  • c.12700G>C - Malignant Hyperthermia associated
  • c.12700G>T - Malignant Hyperthermia associated
chr19:38565182 rs193922853
Missing
 A
  • c.12848A>T - Uncertain function
chr19:38565215 rs587784372
Missing
 C
  • c.12881C>T - Normal function
chr19:38565218 rs193922855
Missing
 C
  • c.12884C>T - Normal function
chr19:38566978 rs139647387
Missing
 A
  • c.13505A>G - Uncertain function
chr19:38570619 rs771741606
Missing
 C
  • c.13672C>T - Uncertain function
chr19:38570620 rs118192130
Missing
 G
  • c.13673G>A - Uncertain function
chr19:38570649
Missing
 C
  • c.13702C>G - Uncertain function
chr19:38572032 rs143520367
Missing
 C
  • c.13760C>T - Uncertain function
chr19:38572185 rs118192135
Missing
 G
  • c.13913G>A - Uncertain function
chr19:38572190 rs756850145
Missing
 A
  • c.13918A>G - Uncertain function
chr19:38572206 rs193922860
Missing
 G
  • c.13934G>A - Uncertain function
chr19:38572262 rs759500310
Missing
 T
  • c.13990T>C - Uncertain function
chr19:38572266 rs193922862
Missing
 TC
  • c.13994_13995delTCinsCT - Uncertain function
chr19:38573180 rs193922863
Missing
 C
  • c.14002C>T - Uncertain function
chr19:38573229 rs193922864
Missing
 T
  • c.14051T>C - Uncertain function
chr19:38573304 rs118192140
Missing
 C
  • c.14126C>T - Uncertain function
chr19:38575957 rs200766617
Missing
 G
  • c.14168G>A - Normal function
chr19:38577931
Missing
 A
  • c.14186A>C - Uncertain function
chr19:38577942 rs193922865
Missing
 T
  • c.14197T>G - Uncertain function
chr19:38577946 rs193922866
Missing
 G
  • c.14201G>A - Uncertain function
chr19:38577954 rs193922867
Missing
 C
  • c.14209C>T - Malignant Hyperthermia associated
chr19:38577955 rs193922868
Missing
 G
  • c.14210G>A - Malignant Hyperthermia associated
chr19:38578015 rs768360593
Missing
 G
  • c.14270G>A - Uncertain function
chr19:38578205
Missing
 G
  • c.14364+1G>T - Uncertain function
chr19:38580004 rs118192167
Missing
 A
  • c.14387A>G - Uncertain function
chr19:38580039
Missing
 TT
  • c.14422_14423delinsAA - Uncertain function
chr19:38580041
Missing
 C
  • c.14424C>A - Uncertain function
chr19:38580066 rs143988412
Missing
 A
  • c.14449A>T - Uncertain function
chr19:38580075 rs193922873
Missing
 G
  • c.14458G>A - Uncertain function
  • c.14458G>T - Uncertain function
chr19:38580088 rs193922874
Missing
 T
  • c.14471T>C - Uncertain function
chr19:38580094 rs121918595
Missing
 C
  • c.14477C>T - Malignant Hyperthermia associated
chr19:38580114 rs193922876
Missing
 C
  • c.14497C>T - Malignant Hyperthermia associated
chr19:38580126
Missing
 C
  • c.14509C>G - Uncertain function
chr19:38580370 rs193922878
Missing
 C
  • c.14512C>G - Malignant Hyperthermia associated
chr19:38580382 rs193922879
Missing
 G
  • c.14524G>A - Uncertain function
chr19:38580397
Missing
 G
  • c.14539G>C - Malignant Hyperthermia associated
chr19:38580403 rs118192168
Missing
 G
  • c.14545G>A - Malignant Hyperthermia associated
chr19:38580416
Missing
 C
  • c.14558C>T - Uncertain function
chr19:38580425 rs193922880
Missing
 C
  • c.14567C>G - Uncertain function
chr19:38580439 rs118192181
Missing
 C
  • c.14581C>T - Uncertain function
chr19:38580440 rs63749869
Missing
 G
  • c.14582G>A - Uncertain function
chr19:38580485 rs113210953
Missing
 A
  • c.14627A>G - Malignant Hyperthermia associated
chr19:38580497 rs193922883
Missing
 T
  • c.14639T>C - Uncertain function
chr19:38584974 rs118192151
Missing
 G
  • c.14678G>A - Uncertain function
chr19:38584976 rs193922888
Missing
 G
  • c.14680G>A - Uncertain function
chr19:38584989 rs118192170
Missing
 T
  • c.14693T>C - Uncertain function
chr19:38585078
Missing
 A
  • c.14782A>G - Uncertain function
chr19:38585099
Missing
 G
  • c.14803G>A - Malignant Hyperthermia associated
chr19:38585947 rs111657878
Missing
 T
  • c.14813T>C - Uncertain function
chr19:38585948 rs118192159
Missing
 C
  • c.14814C>G - Uncertain function
chr19:38585951 rs193922895
Missing
 C
  • c.14817C>A - Uncertain function
chr19:38585952 rs118192158
Missing
 G
  • c.14818G>A - Uncertain function
chr19:38585959 rs193922896
Missing
 G
  • c.14825G>T - Uncertain function
chr19:38586101 rs193922898
Missing
 T
  • c.14879T>A - Uncertain function
chr19:38586140 rs146876145
Missing
 C
  • c.14918C>T - Malignant Hyperthermia associated
chr19:38586190
Missing
 A
  • c.14968A>G - Uncertain function
chr19:38587362
Missing
 G
  • c.15059G>C - Uncertain function
chr19:38587363
Missing
 G
  • c.15060G>C - Uncertain function

SLCO1B1 allele match data

Allele Matched: *1/*15
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Alleles Not Considered:

The following alleles are not considered due to 15 missing positions of the total 35 positions: *2, *6, *8, *10, *11, *23, *26, *34, *36, *50, *58

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

The assigned genotype is *1/*15; however, *5/*37 cannot be ruled out without phased data.
The SLCO1B1 genotype (star nomenclature) will be displayed if determinable with the provided VCF based on the SLCO1B1 star allele definition published by CPIC and recommendations are provided based on the genotype.

In case no genotype can be determined, recommendations are based on the rs4149056 genotype alone as per guideline. The minor C allele at rs4149056 defines SLCO1B1*5.
The SLCO1B1 *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions either because the position is reference or missing.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr12:21172675 rs556524705 G/G G
  • *57 - Unassigned
chr12:21176804 rs2306283 A/G A
  • *14 - Increased function
  • *15 - No function
  • *20 - Increased function
  • *24 - Uncertain function
  • *25 - Uncertain function
  • *27 - Uncertain function
  • *28 - Uncertain function
  • *29 - Uncertain function
  • *30 - Uncertain function
  • *31 - No function
  • *32 - Uncertain function
  • *33 - Uncertain function
  • *37 - Normal function
  • *39 - No function
  • *42 - Uncertain function
  • *43 - Unknown function
  • *44 - Unknown function
  • *45 - No function
  • *47 - No function
  • *52 - Unassigned
  • *53 - Unassigned
  • *54 - Unassigned
  • *55 - Unassigned
  • *56 - Unassigned
  • *57 - Unassigned
chr12:21176868 rs2306282 A/A A
  • *16 - Uncertain function
chr12:21176871 rs145144129 G/G G
  • *55 - Unassigned
chr12:21176879 rs11045819 C/C C
  • *4 - Uncertain function
  • *14 - Increased function
  • *25 - Uncertain function
  • *32 - Uncertain function
  • *43 - Unknown function
  • *53 - Unassigned
  • *55 - Unassigned
chr12:21176898 rs77271279 G/G G
  • *41 - No function
chr12:21178615 rs4149056 T/C T
  • *5 - No function
  • *15 - No function
  • *40 - Uncertain function
  • *45 - No function
  • *47 - No function
chr12:21178926 rs201722521 A/A A
  • *54 - Unassigned
chr12:21178957 rs79135870 A/A A
  • *30 - Uncertain function
chr12:21196951 rs11045852 A/A A
  • *24 - Uncertain function
  • *25 - Uncertain function
  • *28 - Uncertain function
  • *32 - Uncertain function
  • *33 - Uncertain function
  • *43 - Unknown function
  • *44 - Unknown function
  • *54 - Unassigned
chr12:21196975 rs183501729 C/C C
  • *39 - No function
chr12:21196976 rs11045853 G/G G
  • *25 - Uncertain function
  • *28 - Uncertain function
  • *33 - Uncertain function
chr12:21200544 rs72559747 C/C C
  • *47 - No function
chr12:21202555 rs59113707 C/C C
  • *27 - Uncertain function
  • *53 - Unassigned
  • *55 - Unassigned
chr12:21205999 rs59502379 G/G G
  • *9 - No function
  • *31 - No function
chr12:21206031 rs74064213 A/A A
  • *43 - Unknown function
  • *44 - Unknown function
chr12:21222355 rs71581941 C/C C
  • *45 - No function
chr12:21224840 rs200994482 G/G G
  • *51 - Unassigned
chr12:21239042 rs34671512 A/A A
  • *19 - Uncertain function
  • *20 - Increased function
  • *40 - Uncertain function
  • *54 - Unassigned
chr12:21239158 rs140790673 C/C C
  • *29 - Uncertain function
chr12:21141575 rs185905373
Missing
 A
  • *56 - Unassigned
chr12:21172734 rs139257324
Missing
 C
  • *33 - Uncertain function
chr12:21172735 rs61760182
Missing
 G
  • *58 - Unassigned
chr12:21172776 rs373327528
Missing
 G
  • *23 - No function
chr12:21172782 rs56101265
Missing
 T
  • *2 - Uncertain function
chr12:21178612 rs141467543
Missing
 A
  • *42 - Uncertain function
chr12:21178653 rs200331427
Missing
 C
  • *50 - Unassigned
chr12:21200595 rs55901008
Missing
 T
  • *6 - Uncertain function
chr12:21200673 rs756393362
Missing
 G
  • *52 - Unassigned
chr12:21202553 rs1228465562
Missing
 T
  • *36 - Uncertain function
chr12:21202664 rs142965323
Missing
 G
  • *26 - Uncertain function
chr12:21205921 rs72559748
Missing
 A
  • *8 - Uncertain function
chr12:21239077 rs56199088
Missing
 A
  • *10 - Uncertain function
chr12:21239113 rs55737008
Missing
 A
  • *11 - Uncertain function
chr12:21239145 rs200995543
Missing
 C
  • *34 - Uncertain function

TPMT allele match data

Allele Matched: *1/*1
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Alleles Not Considered:

The following alleles are not considered due to 36 missing positions of the total 43 positions: *4, *5, *6, *7, *9, *10, *11, *12, *13, *14, *15, *17, *18, *19, *20, *21, *23, *25, *26, *27, *28, *29, *30, *31, *32, *34, *35, *36, *37, *38, *39, *40, *42, *43, *44

Carriage of these alleles might result in a different phenotype and different guideline recommendations.

The TPMT *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions either because the position is reference or missing.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr6:18130687 rs1142345 T/T T
  • *3A - No function
  • *3C - No function
  • *41 - No function
chr6:18130762 rs56161402 C/C C
  • *8 - Uncertain function
chr6:18133847 rs6921269 C/C C
  • *24 - Uncertain function
chr6:18138969 rs144041067 C/C C
  • *16 - Uncertain function
  • *22 - Uncertain function
chr6:18138970 rs112339338 G/G G
  • *33 - Uncertain function
chr6:18138997 rs1800460 C/C C
  • *3A - No function
  • *3B - No function
chr6:18143724 rs1800462 C/C C
  • *2 - No function
chr6:18130694 rs150900439
Missing
 T
  • *20 - Uncertain function
chr6:18130725 rs72552736
Missing
 A
  • *7 - Uncertain function
chr6:18130729 rs139392616
Missing
 C
  • *40 - Uncertain function
chr6:18130758 rs398122996
Missing
 A
  • *37 - Uncertain function
chr6:18130772 rs377085266
Missing
 A
  • *25 - Uncertain function
chr6:18130781 rs1800584
Missing
 C
  • *4 - No function
chr6:18132136 rs72556347
Missing
 A
  • *26 - Uncertain function
chr6:18132147 rs79901429
Missing
 A
  • *31 - Uncertain function
chr6:18132163
Missing
 C
  • *36 - Unknown function
chr6:18133845 rs75543815
Missing
 T
  • *6 - Uncertain function
chr6:18133870 rs772832951
Missing
 A
  • *38 - Unknown function
chr6:18133884 rs74423290
Missing
 G
  • *23 - No function
chr6:18133887 rs201695576
Missing
 T
  • *44 - Unassigned
chr6:18133890 rs9333570
Missing
 C
  • *15 - No function
chr6:18139027 rs72552737
Missing
 C
  • *10 - Uncertain function
chr6:18139689 rs72552738
Missing
 C
  • *11 - No function
chr6:18139710 rs200220210
Missing
 G
  • *12 - Uncertain function
chr6:18143597
Missing
 T
  • *19 - Uncertain function
chr6:18143606 rs151149760
Missing
 T
  • *9 - Uncertain function
chr6:18143613
Missing
 C
  • *28 - Uncertain function
chr6:18143622 rs115106679
Missing
 C
  • *32 - Uncertain function
chr6:18143643
Missing
 A
  • *27 - Uncertain function
chr6:18143700 rs753545734
Missing
 C
  • *43 - Unassigned
chr6:18143718 rs111901354
Missing
 G
  • *34 - Uncertain function
chr6:18143728 rs1256618794
Missing
 C
  • *43 - Unassigned
chr6:18147838 rs281874771
Missing
 G
  • *39 - Uncertain function
chr6:18147845 rs777686348
Missing
 C
  • *18 - Uncertain function
chr6:18147851 rs200591577
Missing
 G
  • *21 - Uncertain function
chr6:18147856
Missing
 A
  • *35 - Unknown function
chr6:18147910 rs72552740
Missing
 A
  • *5 - Uncertain function
chr6:18149004
Missing
 G
  • *17 - Uncertain function
chr6:18149022 rs750424422
Missing
 C
  • *30 - Unknown function
chr6:18149032 rs759836180
Missing
 C
  • *42 - Unassigned
chr6:18149045 rs72552742
Missing
 T
  • *13 - Uncertain function
chr6:18149126 rs267607275
Missing
 A
  • *29 - No function
chr6:18149127 rs9333569
Missing
 T
  • *14 - No function

UGT1A1 allele match data

Allele Matched: *1/*80+*28
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

The assigned genotype is *1/*80+*28; however, *28/*80 cannot be ruled out without phased data.
The UGT1A1 *1 allele assignment is characterized by the absence of variants at the positions that are included in the underlying allele definitions.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr2:233759924 rs887829 C/T C
  • *80 - Unknown function
  • *80+*28 - Decreased function
  • *80+*37 - Decreased function
chr2:233760233 rs3064744 CAT/CATAT CAT
  • *28 - Decreased function
  • *36 - Increased function
  • *37 - Decreased function
  • *80+*28 - Decreased function
  • *80+*37 - Decreased function
chr2:233760498 rs4148323 G/G G
  • *6 - Decreased function
chr2:233760973 rs35350960 C/C C
  • *27 - Decreased function

VKORC1 allele match data

Variant Matched: rs9923231 reference (C)/rs9923231 variant (T)
Phasing Status:

Unphased

PharmCAT reports the genotype(s) that receive the highest score during the matcher process. In case of unphased data, additional genotypes might be possible and cannot be ruled out.

Calls at Positions

Position in VCF RSID Call in VCF Reference Related Alleles and Function Warnings
chr16:31096368 rs9923231 C/T C
  • rs9923231 variant (T) - Higher coumarin sensitivity

Section IV: Disclaimers and Other Information

Liability: PharmCAT assumes no responsibility for any injury to person or damage to persons or property arising out of, or related to any use of PharmCAT, or for any errors or omissions. The user recognizes that PharmCAT is a research tool and that they are using PharmCAT at their own risk.

A. Allele and Genotype Determination

  1. PharmCAT uses gene allele definitions included in the CPIC database, with exceptions as noted in Gene Definition Exceptions document. For allele definitions and the positions used in PharmCAT, see the gene definition tables.

  2. Genes with DPWG recommendations that are not included in CPIC are discussed in Section C.

  3. PharmCAT results are dependent on the supplied VCF calls for the queried positions (for technical information about PharmCAT input formatting and requirements, please go to pharmcat.org). PharmCAT does not assume any reference calls for positions missing from the submitted VCF file; all missing queried positions are not considered in the allele determination process. See the pharmcat_positions file for which positions are queried in the VCF file. Missing positions might alter the assigned genotype and subsequent phenotype prediction and CPIC recommendation. If the supplied VCF file has missing positions, those positions will be noted in Section III: Allele Matching Details for each gene of this report. For the most reliable allele determination, reference calls as well as variant calls in the VCF file for every queried position must be provided by the user. If an allele that includes a missing position is defined by an additional position(s) for which calls are provided, the allele will be considered in the matching process based on the available information. This might lead to the output of multiple possible genotypes that received the same highest matching score. In addition, alternate calls with a lower score is also possible. For instructions on getting PharmCAT to output all possible matching genotypes, consult the documentation.

  4. For cytochrome P450 genes, NAT2, TPMT, NUDT15, UGT1A1, and SLCO1B1, the *1 allele is defined by the absence of variation specified in the gene definition tables. This allele cannot be identified by variants; rather, *1 is assigned by default when no variation for the queried positions is reported in the submitted VCF file. The same is true for all other genes with multiple variant positions in the definition table (CACNA1S, CFTR, DPYD, RYR1): the reference sequence is the default result when variants are not reported in the VCF file. It is always possible un-interrogated variation can occur which could potentially affect allele function, but because it is undetected, the assignment would be defaulted to a *1 (or reference) allele and normal function.

  5. For all genes, variation reported in the VCF file but NOT included in the gene definition table will not be considered during allele assignment. There is a possibility that any such variation results in a reduced or no activity allele which could lead to inaccurate phenotype and CPIC recommendation, similar to the situation in point 3, above.

  6. Nucleotide base calls are displayed on the positive chromosomal strand regardless of the gene strand; further information is provided under Gene-specific warnings in Section III: Allele Matching Details.

  7. Structural variation star alleles that cannot be detected using VCF file data:

    • CYP2B7-CYP2B6 hybrids: CYP2B6*29, CYP2B6*30
    • Partial and whole gene deletions: CYP2C19*36, CYP2C19*37, CYP4F2*16, SLCO1B1*48, SLCO1B1*49

  8. PharmCAT matches variants to genotypes assuming unphased data (unless phased data is provided in the VCF file and noted as such, see pharmcat.org for details). The assumption is that defined alleles exist in trans configuration, i.e. on opposite chromosomes, with exceptions noted in Section III: Allele Matching Details under "Gene-specific warnings." However, in cases where an allele is defined by a combination of two or more variants, where each variant alone also defines an allele, the match is based on the longer allele. For example, TPMT*3B is defined by one SNP, *3C is defined by another SNP, and *3A is defined by the combination of those two SNPs. In the case of unphased data that is heterozygous for both SNPs, the *1/*3A genotype is returned though the possibility of *3B/*3C cannot be ruled out.

    Below cases are summarized for which two calls with different scores are possible when provided unphased data and heterozygous calls for the variants that define the two alleles. The genotype with the higher score (longer allele) will be used to determine allele functionality, phenotype, and recommendation but the genotype with the lower score cannot be ruled out.

Table 1: Cases for which there is an overlap in the allele definitions.

Gene Genotype (Higher Score) Phenotype Genotype (Lower Score) Phenotype
UGT1A1 *1/*80+*28 Intermediate *28/*80 Indeterminate
UGT1A1 *1/*80+*37 Intermediate *37/*80 Indeterminate
TPMT *1/*3A Intermediate *3B/*3C Poor
NUDT15 *1/*2 Intermediate *3/*6 Possible Intermediate
CYP2C9 *1/*71 Indeterminate *10/*22 Indeterminate
CYP2C19 *1/*34 Indeterminate *38/*40 N/A
CYP2B6 *1/*36 Intermediate *6/*22 Intermediate
CYP2B6 *1/*34 Intermediate *33/*36 Indeterminate
CYP2B6 *1/*6 Intermediate *4/*9 Intermediate
CYP2B6 *1/*7 Intermediate *5/*6 Intermediate
CYP2B6 *1/*13 Intermediate *6/*8 Intermediate
SLCO1B1 *1/*14 Normal Function *4/*37 Indeterminate
SLCO1B1 *1/*15 Decreased Function *5/*37 Decreased Function
SLCO1B1 *1/*20 Normal Function *19/*37 Indeterminate
SLCO1B1 *1/*25 Indeterminate *4/*28 Indeterminate
SLCO1B1 *1/*31 Decreased Function *9/*37 Decreased Function
SLCO1B1 *1/*32 Indeterminate *4/*24 Indeterminate
SLCO1B1 *1/*40 Indeterminate *5/*19 Possible Decreased Function
SLCO1B1 *1/*43 Indeterminate *4/*44 Indeterminate
SLCO1B1 *1/*53 N/A *4/*27 Indeterminate
CYP4F2 *1/*4 N/A *2/*3 N/A
CYP3A4 *1/*37 N/A *3/*22 N/A
CYP3A4 *1/*38 N/A *3/*11 N/A
G6PD A- 202A_376G/B (reference) Variable A/Asahi Variable
G6PD B (reference)/Mt Sinai Variable A/Guadalajara Variable
G6PD B (reference)/Santa Maria Variable A/Malaga Variable
G6PD Ananindeua/B (reference) Variable A/Viangchan, Jammu Variable
G6PD B (reference)/Hechi Variable Asahi/Viangchan, Jammu Deficient
G6PD B (reference)/Hermoupolis Variable Cassano/Union,Maewo, Chinese-2, Kalo Deficient

Table 2: Cases for which there is an overlap in the allele definitions because the definition of the non-*1 allele in the genotype with the higher score allows for reference or variant at the position that defines the first allele listed in the genotype with the lower score. Both genotypes cannot be ruled out with unphased data if the position that overlaps between the respective alleles is heterozygous (0/1) in addition to heterozygous calls for the other variants that define the non-*1 allele in the genotype with the higher score.

Gene Genotype (Higher Score) Phenotype Genotype (Lower Score) Phenotype
CYP2C19 *1/*4 Intermediate *17/*4 Intermediate
CYP2C19 *1/*2 Intermediate *11/*2 Intermediate
CYP2C19 *1/*35 Intermediate *15/*35 Intermediate
CYP2B6 *1/*18 Intermediate *4/*18 Indeterminate
CYP2C9 *1/*36 Indeterminate *5/*36 Indeterminate
SLCO1B1 *1/*45 Decreased Function *15/*45 Poor Function
  1. For NAT2, PharmCAT requires variant input for rs1801279 (191G>A), rs1801280 (341T>C), rs1799930 (590G>A), rs1208 (803G>A), and rs1799931 (857G>A). The default PharmCAT behavior is changed for unphased NAT2 data, details are noted in the Gene Definition Exceptions document.

B. CPIC Allele Function, Phenotype and Recommendation

All content is sourced from the CPIC database.

C. DPWG Allele Function, Phenotype and Recommendation

  1. ClinPGx annotates PGx-based drug dosing guidelines published by the Royal Dutch Association for the Advancement of Pharmacy - Pharmacogenetics Working Group (DPWG). PharmCAT uses ClinPGx/CPIC allele function and phenotype information to connect diplotypes with DPWG guideline recommendations.

  2. CYP3A4 is currently not part of a CPIC guideline. Since the DPWG CYP3A4 documentation includes limit variant notations for the included alleles (only *16, *20, and *22 are specified) PharmCAT relies on PharmVar CYP3A4 allele definitions. However, the CYP3A4*16, *20 and *22 definitions are the same in both sources.

D. FDA drug-label and Table of Pharmacogenetic Associations recommendations

PharmCAT includes recommendations from ClinPGx-annotated FDA drug labels and the FDA Table of Pharmacogenetic Associations. It only contains FDA information for genes with CPIC or DPWG guidelines because the FDA does not offer any genotype-to-phenotype mapping information. PharmCAT uses CPIC genotype-to-phenotype mappings when they exist, and DPWG genotype-to-phenotype mappings when no CPIC mappings exist, to determine the phenotypes to use with FDA label annotations and Table of Pharmacogenetic Associations entries. Results presented for FDA Table of Pharmacogenetic Associations use wording and “Affected Subgroups” taken directly from the Table. Results presented from ClinPGx-annotated drug labels present wording from the specific label that was curated. In many cases, multiple FDA labels may exist for a particular medication. Typically, ClinPGx annotates the label linked to from the FDA Table of Pharmacogenomic Biomarkers in Drug Labeling but in some cases a different label may be annotated. Follow the “FDA Label Annotation” link in section II of the report to access the annotated label and more information.

E. Source Tags in Section II

Part of ClinPGx’s annotations of guidelines, drug labels and Table of Pharmacogenetic Associations is the assignment of labels that are meant to provide a high-level indication of the provided action. If recommendations or FDA Table wording exists, yellow boxes display if the guidance/wording is regarding (1) a dosing change, (2) recommending an alternate drug be used, or (3) other guidance. These boxes are included in the Source column in Section II of the PharmCAT report. More detailed information about what the yellow boxes mean is available on ClinPGx.

F. PharmCAT Exceptions to the CPIC Guideline Gene List

  1. PharmCAT does not determine CYP2D6, MT-RNR1, HLA-A, or HLA-B genotypes from the VCF file, but genotypes for CYP2D6, MT-RNR1, HLA-A, or HLA-B can be provided to PharmCAT from an outside source and the corresponding phenotype prescribing recommendations will be included in the generated report. For the required format of the outside calls refer to the PharmCAT outside calls documentation.

  2. CPIC has assigned function to the following CYP2D6 CNV alleles: *1x2, *1x≥3, *2x2, *2x≥3, *3x2, *4x2, *4x≥3, *6x2, *9x2, *10x2, *17x2, *29x2, *35x2, *36x2, *41x2, *41x3, *43x2, *45x2, *146x2. These alleles are part of the CPIC diplotype to phenotype translation and can be connected to recommendations. Other CNV notations from outside calls need to be mapped accordingly.

G. CPIC Guideline Disclaimers and Caveats

  1. A version of the following quoted disclaimer is part of each CPIC guideline and applies to the CPIC recommendations as used in PharmCAT. For the full description of potential benefits and risks, additional considerations (general and specific to gene-drug pairs), limitations, information about respective gene nomenclature systems, potential drug-drug interactions and clinical factors to consider, please see individual CPIC guidelines at (cpicpgx.org).

    1. "CPIC guidelines reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time a guideline was submitted for publication. Guidelines are limited in scope and are not applicable to interventions or diseases not specifically identified. Guidelines do not account for all individual variations among patients and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guidelines is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. CPIC assumes no responsibility for any injury to persons or damage to persons or property arising out of or related to any use of CPIC's guidelines, or for any errors or omissions." (PMID: 27997040)

    2. "Caveats: appropriate use and/or potential misuse of genetic tests. The application of genotype-based dosing is most appropriate when initiating therapy with a tricyclic. Obtaining a pharmacogenetic test after months of drug therapy may be less helpful in some instances, as the drug dose may have already been adjusted based on plasma concentrations, response, or side effects. Similar to all diagnostic tests, genetic tests are one of several pieces of clinical information that should be considered before initiating drug therapy." (PMID: 27997040)

  2. CPIC guidelines reflect the alleles/genotypes known and considered by the guideline authors for inclusion by the time of publication, however they may be updated online at cpicpgx.org and in the CPIC database in between publications. Additional alleles and/or more extensive allele definitions might exist by the representative gene nomenclatures for various genes.

  3. CPIC is a registered service mark of the U.S. Department of Health & Human Services (HHS).

H. ClinPGx Disclaimers and Caveats

PharmGKB is a registered service mark of the U.S. Department of Health & Human Services (HHS).