NA12878 (1000 Genomes / GIAB demo sample): genome report

MyHeritage raw export (NA12878_GSA_myheritage.csv, Illumina GSA, GRCh37) · ClinVar variant_summary.txt.gz dated 2026-09-24 · generated 2026-09-29 on this Mac. No data left the machine.

Read before the disease section. This is a consumer genotyping array, not sequencing. For rare variants called pathogenic, array calls are frequently wrong and any such finding needs confirmation by a clinical lab before it means anything. In the largest study of this (Weedon et al. 2021, BMJ 372:n214), only 16% of 4,757 chip calls of very rare variants were confirmed by sequencing: "SNP chips are extremely unreliable for genotyping very rare pathogenic variants and should not be used to guide health decisions without validation." The array cannot see copy-number changes (e.g. CYP2D6 deletions/duplications) or most indels, and most variants in your genes were never measured. MyHeritage itself labels the file "not intended for medical purposes". A "risk factor" in ClinVar is usually a small shift in odds from a common variant, not a diagnosis.

SNPs on the file

609,424

GSA chip, GRCh37

Call rate

98.12%

11,485 no-calls

Autosomal heterozygosity

18.9%

of called autosomal SNVs

Inferred sex

Female

X het 26.56% · Y call rate 0.0%

Strand/build check

98.6%

of 28,500 ClinVar sites fit forward strand

Runs of homozygosity

48.7 Mb

33 segments · longest 5.72 Mb

The short version

The data file is good. Almost every marker was read successfully (98.1%), and it behaves as a female sample should.
No sign of closely related parents. The stretches of DNA where your two copies are identical are all short (longest 5.7 Mb). Close relatives as parents leave runs of tens of Mb; distant shared ancestry is invisible at this resolution.
This chip can't screen for rare disease, and a clean result wouldn't mean much. Of the 1 marker labelled "pathogenic", none passes a basic credibility check (section 3).
APOE (the main common Alzheimer-risk gene): the result is behind a click in section 3, so you choose whether to see it.
Paternal line: not readable from this sample (no Y chromosome)
Ancestry: European at the continental level (minor non-European components of a few percent are within the method's noise). Within Europe, two independent methods agree that you are most similar to English and Norwegian samples (Northern & Western Europe). The data can't reliably tell apart some of the closest groups (Norwegian, Icelandic, French, Orcadian) (section 6).
HLA (imputed, not a clinical test): carries a coeliac-risk HLA type; no HLA-B27; the drug-hypersensitivity HLA alleles PharmCAT checks are not predicted (section 8).
Medicines: genes whose guideline phenotype isn't "normal": CYP2C19 (Intermediate Metabolizer), CYP2C9 (Intermediate Metabolizer), CYP3A5 (Poor Metabolizer), DPYD (ambiguous: 2 possible diplotypes), NAT2 (Intermediate Metabolizer), SLCO1B1 (Decreased Function), UGT1A1 (Intermediate Metabolizer), VKORC1 (-1639 AG). Some of these are common: CYP3A5 *3/*3 is the genotype of 448 of 503 (89%) 1000 Genomes Europeans. This only matters if you're prescribed a drug those genes affect, and a clinic would confirm it first (section 7).
Polygenic scores (percentile vs 1000 Genomes Europeans): Coronary artery disease 21, Type 2 diabetes (T2D) 24, Atrial fibrillation 10, Colorectal cancer 44, Breast cancer 44. Relative rankings, not risks, each uncertain by several points; with 5 scores, the highest is expected near the 83rd percentile by chance (section 9).
Blood group A; traits in section 10.

This page is a first look for someone curious about their own DNA, not a medical result. The glossary explains every technical word.

Glossary: what the terms mean

SNP (single-nucleotide polymorphism): A single position in the DNA where people differ in which letter (A, C, G or T) they have. Your chip measured about 609,424 of these positions, a small fraction of the roughly 3 billion letters in the genome.
rsID: The catalogue number of a SNP in dbSNP, the public database of human variants (e.g. rs429358). Everyone who studies that position uses the same number.
Allele · genotype: An allele is one version of a position (say, C or T). You have two copies of each non-sex chromosome, one from each parent, so your genotype has two letters (e.g. CT).
Reference allele · variant (alt) allele: The reference is the letter in the standard human reference genome. The variant (or "alternate") allele is the other letter. The reference is simply the letter the reference genome happened to contain, not "normal" or "healthy". Occasionally it is the disease version itself (Factor V Leiden is an example).
Heterozygous · homozygous · hemizygous: Heterozygous: two different letters (CT), meaning one copy of the variant. Homozygous: two identical letters (CC or TT). Hemizygous: only one copy exists. Men have one X and one Y chromosome, so genes on them are hemizygous.
Carrier: Someone with one copy of a variant that only causes disease when both copies are affected (a recessive condition). Carriers are usually healthy, but can pass the variant on.
Penetrance: How often people with a variant actually develop the condition. "Low penetrance" means most carriers never do.
ClinVar: The US National Library of Medicine's public database where labs and researchers submit their verdict on what a variant does. This report uses a copy downloaded on 2026-09-24.
Pathogenic · likely pathogenic: Submitters judged the variant to cause (or very probably cause) a disease. It says nothing about how likely you are to be affected: that depends on whether the condition needs one or two copies, on penetrance, and on whether the call is even correct.
Uncertain significance (VUS): Not enough evidence either way. A VUS should be treated as "unknown", not as a warning.
Benign · likely benign: Judged harmless. Most of your ClinVar matches are in this group, as they are for everyone.
Risk factor · association · protective: Common variants that nudge the odds of a condition up (risk factor) or down (protective), or that turned up in a population study (association). Individually these effects are usually small, and many people with them never develop the condition.
Drug response (pharmacogenomics): Variants that change how the body processes or responds to a medicine, affecting dose, effect or side effects. Clinically these are read as combinations (star alleles such as CYP2C19*17), not one SNP at a time.
Conflicting classifications: Different submitters to ClinVar disagree about the variant.
Review stars (★): ClinVar's measure of how much to trust a classification. ★★★★ practice guideline · ★★★ reviewed by an expert panel · ★★ several submitters agree · ★ one submitter who stated their criteria (or submitters conflict) · no stars: no criteria given. Zero-star records deserve very little weight.
Genotyping array (chip): The technology MyHeritage used. It checks a fixed list of positions and is very accurate for common variants, but it often misreads rare ones. That is why any rare "pathogenic" result needs a clinical test before it means anything.
Call rate · no-call: The share of positions the chip read successfully. A no-call (--) is a position it could not read.
Heterozygosity: The share of positions where your two copies differ. It is a quick sanity check: sex chromosomes in a man should be close to zero.
Runs of homozygosity (ROH) · F_ROH: Long stretches where both copies are identical because both parents inherited that segment from a shared ancestor. F_ROH is the fraction of the genome in such runs. Long runs point to recent shared ancestors; short ones are normal background.
GRCh37 · forward strand: GRCh37 (also called hg19) is the version of the reference genome the positions refer to. DNA is double-stranded, and "forward strand" says which of the two strands the letters were read from. Both must match the databases being compared against, and the QC section checks that they do.
Mb (megabase): One million DNA letters.

1 · Quality control

In plain words: before trusting any result, check that the file is intact, that it behaves like a real human sample, and that it uses the same coordinate system as the databases. It passes all three.

482,746 homozygous, 115,193 heterozygous, 11,485 no-calls and 0 indel probes (coded D/I; not interpreted here because the file does not say which allele is the reference). 48 positions appear twice under different rsIDs; no duplicated rsIDs; no unexpected chromosome codes.

Chip artefacts, counted

Of 572,699 measured SNPs also in 1000 Genomes, you are called homozygous for an allele that fewer than 1% of Europeans carry at 3 sites. Hardy–Weinberg predicts about 0.5. 0 of them are alleles not seen in any of the reference Europeans. That is close to what chance predicts, so this file shows no sign of the rare-variant probe errors Weedon et al. (2021, BMJ) describe for consumer arrays (typical for data that did not come from a chip). These calls are flagged in the disease section, masked for pharmacogenomics, and kept out of the imputation used for polygenic scores.

How accurate is the imputation? Measured on 502 people with known answers

The 502 unrelated 1000 Genomes Europeans were cut down to exactly your chip's positions and imputed the same way you were, against a panel that excludes them. Their sequenced genotypes at 200,935 sampled imputed positions (1 in 200 imputed SNVs) are the answer key; the frequency table covers the 67,249 of them that vary among the 502. Dosage r² is how well the imputed values track the truth (1 = perfect). Non-reference concordance counts only genotypes that carry the variant, where errors matter; overall accuracy is inflated by the many easy "no variant" cases. Common variants impute well; rare ones don't, which is why rare imputed calls are never used on their own in this report.

Variant frequency	Sites	Median dosage r²	Non-reference concordance
< 0.1%	11,689	0.50	89.3%
0.1–0.5%	10,567	0.50	81.7%
0.5–1%	5,089	0.60	73.8%
1–5%	11,142	0.90	87.0%
5–20%	13,402	0.96	92.4%
20–50%	15,360	0.97	94.6%

And the confidence flag used throughout the report: accuracy of the best-guess genotype by its genotype probability.

Genotype probability	Genotypes	Correct
0-0.8	755,597	64.3%
0.8-0.9	474,373	82.6%
0.9-0.99	1,752,909	93.3%
0.99-1	97,886,491	99.9%

Heterozygosity per chromosome

Autosomes sit near 19%. X and Y are near zero, consistent with one copy of each (female, as inferred by plink). The few heterozygous X/Y calls (6703 on X, 0 on Y) are genotyping errors. The file contains no pseudo-autosomal X probes (plink --split-x b37 moved none) and no mitochondrial probes.

AutosomesSex chromosomes

Per-chromosome table

Chr	Probes	No-call	Hom	Het	Call rate	Het rate	Array span (Mb)
1	45,482	244	36,866	8,372	99.46%	18.51%	249.2
2	46,460	272	37,786	8,402	99.41%	18.19%	243.0
3	42,460	120	34,617	7,723	99.72%	18.24%	197.8
4	39,531	123	32,404	7,004	99.69%	17.77%	190.9
5	37,674	958	29,751	6,965	97.46%	18.97%	180.7
6	43,618	168	34,536	8,914	99.61%	20.52%	170.7
7	34,248	199	27,762	6,287	99.42%	18.46%	159.1
8	31,914	120	26,008	5,786	99.62%	18.20%	146.1
9	21,837	107	17,392	4,338	99.51%	19.96%	141.0
10	30,756	98	24,948	5,710	99.68%	18.62%	135.3
11	30,257	143	24,621	5,493	99.53%	18.24%	134.7
12	26,461	120	21,417	4,924	99.55%	18.69%	133.6
13	19,160	53	15,473	3,634	99.72%	19.02%	96.1
14	17,041	75	13,780	3,186	99.56%	18.78%	88.2
15	16,635	119	13,242	3,274	99.28%	19.82%	82.4
16	17,922	131	14,244	3,547	99.27%	19.94%	90.1
17	16,341	117	13,171	3,053	99.28%	18.82%	81.1
18	15,863	80	12,521	3,262	99.50%	20.67%	78.0
19	12,926	112	10,188	2,626	99.13%	20.49%	58.9
20	13,508	67	10,735	2,706	99.50%	20.13%	62.9
21	7,742	45	6,118	1,579	99.42%	20.51%	38.2
22	8,397	63	6,629	1,705	99.25%	20.46%	35.1
X	29,696	4,456	18,537	6,703	84.99%	26.56%	152.2
Y	3,495	3,495	0	0	0.00%	nan%	56.3

Genotype classes

A/T and C/G heterozygotes are rare because array designs avoid strand-ambiguous SNPs. The strand check against ClinVar reference alleles found 98.6% of 28,500 overlapping sites consistent with the forward strand, 80 consistent only after complementing, and 320 inconsistent. rsIDs agree with ClinVar at 99.93% of matched sites. The file really is GRCh37, forward strand.

2 · Runs of homozygosity

In plain words: if your parents shared a recent ancestor, you would have long identical stretches (blue bars below) on many chromosomes. Yours are few and short, which is the pattern of unrelated parents.

Long stretches where both chromosome copies are identical are inherited from a shared ancestor on both sides. Many long runs (tens of Mb) point to closely related parents. plink --homozyg with default settings (≥1 Mb, ≥100 SNPs) found 33 segments totalling 48.7 Mb, the longest 5.72 Mb; 9 are ≥1.5 Mb (20.3 Mb). As a fraction of the 2,793 Mb autosomal span the array covers, F_ROH ≈ 0.0174. No run reaches 10 Mb, the scale close parental relatedness leaves. Short runs like these are typical background, but comparing against a reference population is what would make that quantitative.

Segment table

Chr	Start	End	Length (Mb)	SNPs
7	61,060,868	66,781,957	5.72	551
17	27,612,379	29,785,370	2.17	252
3	48,457,589	50,495,364	2.04	295
5	44,534,364	46,399,093	1.86	215
12	33,075,020	34,843,869	1.77	210
7	118,010,631	119,745,993	1.74	182
11	47,261,260	48,984,006	1.72	292
2	135,397,569	137,087,603	1.69	188
1	45,849,332	47,399,034	1.55	239
1	90,601,373	92,024,948	1.42	235
12	37,891,147	39,311,625	1.42	154
11	109,389,068	110,791,312	1.40	242
14	66,591,770	67,983,868	1.39	174
15	76,554,214	77,944,442	1.39	155
2	97,365,213	98,710,243	1.35	120
10	74,148,130	75,416,789	1.27	122
15	72,037,982	73,261,781	1.22	183
3	96,128,702	97,349,788	1.22	132
8	91,759,177	92,972,780	1.21	174
20	32,510,644	33,692,261	1.18	158
17	10,169,293	11,349,858	1.18	334
17	58,124,028	59,281,730	1.16	141
1	72,660,143	73,814,159	1.15	127
5	139,712,736	140,865,264	1.15	208
10	68,849,988	69,905,283	1.06	135
8	111,318,212	112,365,145	1.05	109
4	33,305,495	34,347,092	1.04	130
1	35,384,605	36,424,985	1.04	111
17	19,550,270	20,582,123	1.03	115
8	47,120,629	48,142,676	1.02	121
12	39,636,681	40,657,700	1.02	156
5	21,060,393	22,067,795	1.01	132
9	127,215,344	128,218,097	1.00	120

3 · Disease and drug-response markers (ClinVar)

In plain words: every person carries thousands of DNA variants listed in ClinVar, and nearly all of them are harmless. What matters for any single line is:

What it is labelled (pathogenic, risk factor, drug response…).
How trustworthy that label is: the review stars. Treat zero stars as a rumour.
How many copies you have (zygosity). One copy of a recessive disease variant makes you a carrier, not a patient.
Whether the chip read it correctly. Chips often misread rare variants (why).

Your 597,939 called SNVs were matched to 4,237,319 ClinVar GRCh37 SNV records by chromosome + position. 28,500 of your sites are in ClinVar, and you carry the ClinVar variant allele at 4,647 records. Most are benign. The array tested 354 sites that ClinVar lists as pathogenic/likely pathogenic with ≥2 review stars. You carry only the reference allele at 353 of them; the exception is flagged below.

ClinVar records where you carry the variant allele

Pathogenic / likely pathogenic (1)

None of these is a credible finding as it stands:

PAH rs5030860 (heterozygous): 3-star record. Needs confirmation by clinical-grade sequencing before it means anything.

Gene	rsID	Chr	Genotype	Variant allele	Zygosity	1000G freq	Review	ClinVar classification	Condition(s)	ClinVar ID
PAH	rs5030860	12	CT	C	heterozygous	0.00%	★★★☆	Pathogenic	Hyperphenylalaninemia; Phenylketonuria; PAH-related disorder; See cases	593

Well-known markers, whatever the genotype

APOE, the main common Alzheimer-risk gene. Click to show. Some people prefer not to know; the result predicts nothing on its own, and nothing medical currently follows from it.

APOE: rs429358 = TT, rs7412 = CC → ε3/ε3. Definition from dbSNP: ε4 = C at rs429358, ε2 = T at rs7412, ε3 = neither. The local ClinVar rows agree: rs429358-C is a risk factor for Alzheimer disease 2, and rs7412-T is linked to familial type 3 hyperlipoproteinemia. This is the most consequential line in the report. It shifts risk and predicts nothing on its own. If it matters to you, talk to a clinical geneticist before reading effect sizes online.

Factor V Leiden (F5) (rs6025; risk allele T; the GRCh37 reference itself carries the Leiden allele): CC, no copy. Prothrombin G20210A (F2) (rs1799963; risk allele A): GG, no copy. HFE C282Y (rs1800562; risk allele A): GG, no copy. HFE H63D (rs1799945; risk allele G; ClinVar classifications conflict): CC, no copy.

rsID	Gene	Your genotype	GRCh37 ref	ClinVar alt	Variant	ClinVar classification	Review	ClinVar ID
rs6025	F5	CC	T	T	NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	drug response	★★★☆	642
rs6025	F5	CC	T	C	NM_000130.5(F5):c.1601= (p.Arg534=)	Conflicting classifications of pathogenicity	★☆☆☆	226007
rs1799945	HFE	CC	C	G	NM_000410.4(HFE):c.187C>G (p.His63Asp)	Conflicting classifications of pathogenicity; other	★☆☆☆	10
rs1800562	HFE	GG	G	A	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	Pathogenic/Pathogenic, low penetrance; risk factor	★★☆☆	9
rs1799963	F2	GG	G	A	NM_000506.5(F2):c.*97G>A	Pathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele; risk factor	★★☆☆	13310
rs429358	APOE	TT	T	C	NM_000041.4(APOE):c.388T>C (p.Cys130Arg)	Conflicting classifications of pathogenicity; other; risk factor	★☆☆☆	17864
rs429358	APOE	TT	T	T	NM_000041.4(APOE):c.388= (p.Cys130=)	no classification for the single variant	☆☆☆☆	694742
rs7412	APOE	CC	C	T	NM_000041.2(APOE):c.526C>T (p.Arg176Cys)	drug response	★★★☆	17848

Drug response (53; 23 with ≥2 stars)

In plain words: these variants can change how your body handles certain medicines, for example cholesterol drugs, blood thinners or some chemotherapy. None of them is a disease. They are worth mentioning to a doctor only if one of the listed drugs is ever prescribed, and a clinic would confirm them with a dedicated test. The "Condition(s)" column names the drug and effect.

Pharmacogenomic results normally combine several SNPs into a star-allele diplotype (e.g. CYP2C19*17). These are single-SNP records, and a real PGx call would come from a tool such as PharmCAT. The 3–4-star rows are ClinPGx/expert-panel curated.

Gene	rsID	Chr	Genotype	Variant allele	Zygosity	1000G freq	Review	ClinVar classification	Condition(s)	ClinVar ID
CYP2C19	rs12769205	10	GA	G	heterozygous	23%	★★★★	drug response	CYP2C19: no function	633850
ADD1	rs4961	4	TG	T	heterozygous	21%	★★★☆	drug response	Hypertension, salt-sensitive essential, susceptibility to; hydrochlorothiazide response - Efficacy	18274
ADRB2	rs1042713	5	AG	A	heterozygous	48%	★★★☆	drug response	salmeterol response - Efficacy	225937
CHRNA5	rs16969968	15	GA	A	heterozygous	15%	★★★☆	drug response	LUNG CANCER SUSCEPTIBILITY 2; SMOKING AS A QUANTITATIVE TRAIT LOCUS 3; nicotine response - Toxicity; Susceptibility to severe coronavirus disease (COVID-19) due	17497
CYP2C19	rs12777823	10	AG	A	heterozygous	25%	★★★☆	drug response	warfarin response - Dosage	225947
DPYD	rs1801159	1	TC	C	heterozygous	18%	★★★☆	drug response	Dihydropyrimidine dehydrogenase deficiency; capecitabine response - Toxicity; fluorouracil response - Toxicity; DPYD-related disorder	100092
DPYD	rs1801158	1	TC	T	heterozygous	0.94%	★★★☆	drug response	Dihydropyrimidine dehydrogenase deficiency; capecitabine response - Toxicity; fluorouracil response - Toxicity; DPYD-related disorder	100094
IFNL3	rs11881222	19	GA	G	heterozygous	25%	★★★☆	drug response	ribavirin response - Efficacy; peginterferon alfa-2a response - Efficacy; peginterferon alfa-2b response - Efficacy	375658
IFNL3;IFNL4	rs12979860	19	TC	T	heterozygous	36%	★★★☆	drug response	peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy; peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin respons	225949
MTHFR	rs1801133	1	AG	A	heterozygous	25%	★★★☆	drug response	MTHFR THERMOLABILE POLYMORPHISM; Gastrointestinal stromal tumor; Neural tube defects, folate-sensitive; Homocystinuria due to methylene tetrahydrofolate reducta	3520
SCN1A	rs3812718	2	TT	T	homozygous	49%	★★★☆	drug response	Febrile seizures, familial, 3a; carbamazepine response - Dosage; Early-infantile DEE	12897
SLC19A1	rs1051266	21	TC	C	heterozygous	49%	★★★☆	drug response	Gastrointestinal stromal tumor; methotrexate response - Efficacy; Lung cancer	157588
SLCO1B1	rs4149056	12	TC	C	heterozygous	9%	★★★☆	drug response	Rotor syndrome; simvastatin acid response - Metabolism/PK; Gilbert syndrome; atorvastatin response - Metabolism/PK; simvastatin response - Toxicity; hmg coa red	37346
TNF	rs1800629	6	AG	A	heterozygous	9%	★★★☆	drug response	etanercept response - Efficacy; ; Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR4; Systemic lupus e	225964
UGT1A1	rs10929302	2	GA	A	heterozygous	30%	★★★☆	drug response	Gilbert syndrome; irinotecan response - Toxicity	810732
VKORC1	rs2359612	16	GA	G	heterozygous	61%	★★★☆	drug response	warfarin response - Dosage	225975
VKORC1	rs8050894	16	CG	G	heterozygous	42%	★★★☆	drug response	warfarin response - Dosage	226026
VKORC1	rs9934438	16	GA	A	heterozygous	36%	★★★☆	drug response	Warfarin response; acenocoumarol response - Dosage; warfarin response - Dosage; phenprocoumon response - Dosage	37344
XRCC1	rs25487	19	CT	C	heterozygous	74%	★★★☆	drug response	Platinum compounds response - Efficacy; Spinocerebellar ataxia, autosomal recessive 26	225976
CYP2C9	rs1799853	10	CT	T	heterozygous	5%	★★☆☆	Likely benign; drug response; other	Warfarin response; Lesinurad response; Flurbiprofen response; Piroxicam response; Phenytoin response	8409
CYP2D6	rs3892097	22	TC	T	heterozygous	9%	★★☆☆	Likely benign; drug response; other	Debrisoquine, poor metabolism of; Tramadol response; Deutetrabenazine response; Tamoxifen response; Familial cancer of breast; Malignant lymphoma, large B-cell,	16889
CYP2D6	rs1065852	22	AG	A	heterozygous	24%	★★☆☆	Likely benign; drug response; other	Debrisoquine, poor metabolism of; Tramadol response; Deutetrabenazine response; Tamoxifen response	16893
SLC29A3	rs780668	10	CT	T	heterozygous	48%	★★☆☆	Benign/Likely benign; drug response	H syndrome; Gemcitabine response; Acanthosis nigricans	130341
ABCB1	rs3842	7	TC	C	heterozygous	19%	☆☆☆☆	drug response	Tramadol response	829596
ABCB1	rs1922242	7	AT	T	heterozygous	38%	☆☆☆☆	drug response	Tramadol response	829509
ABCB1	rs2235013	7	TT	T	homozygous	46%	☆☆☆☆	drug response	Tramadol response	828698
ABCB1	rs2235033	7	GG	G	homozygous	46%	☆☆☆☆	drug response	Tramadol response	829480
ABCB1	rs10276036	7	TT	T	homozygous	57%	☆☆☆☆	drug response	Tramadol response	829458
ABCB1	rs1922240	7	TC	C	heterozygous	27%	☆☆☆☆	drug response	Tramadol response	828652
ABCB1	rs868755	7	GG	G	homozygous	67%	☆☆☆☆	drug response	Tramadol response	829434
ABCB1	rs2214102	7	CT	C	heterozygous	98%	☆☆☆☆	drug response	Tramadol response	829326
ABCC1	rs45511401	16	TT	T	homozygous	1%	☆☆☆☆	drug response	Atorvastatin response	1687048
APOE	rs405509	19	GT	G	heterozygous	53%	☆☆☆☆	drug response	Warfarin response	619951
APOE	rs439401	19	CT	C	heterozygous	60%	☆☆☆☆	drug response	Warfarin response	619953
CHI3L1	rs880633	1	CC	C	homozygous	37%	☆☆☆☆	drug response	Thalidomide response	3900037
COMT	rs165599	22	GA	A	heterozygous	49%	☆☆☆☆	drug response	Tramadol response	828938
COMT	rs165728	22	TT	T	homozygous	84%	☆☆☆☆	drug response	Tramadol response	829732
CYP19A1	rs727479	15	AA	A	homozygous	72%	☆☆☆☆	drug response	Letrozole response	2581079
CYP2D6	rs1080989	22	TC	T	heterozygous	24%	☆☆☆☆	drug response	Tramadol response	828811
DIO1	rs2235544	1	CA	A	heterozygous	46%	☆☆☆☆	drug response	Levothyroxine response	2573328
MAPK4	rs3752087	18	AA	A	homozygous	31%	☆☆☆☆	drug response	Thalidomide response	3900041
NAT2	rs1801280	8	CT	C	heterozygous	29%	☆☆☆☆	Benign; drug response	Slow acetylator due to N-acetyltransferase enzyme variant; NAT2-related disorder	723
OPRM1	rs6912029	6	GT	T	heterozygous	7%	☆☆☆☆	drug response	Tramadol response	828472
OPRM1	rs563649	6	CT	T	heterozygous	11%	☆☆☆☆	drug response	Tramadol response	828443
OPRM1	rs2075572	6	CG	C	heterozygous	61%	☆☆☆☆	drug response	Tramadol response	829200
OPRM1	rs540825	6	TT	T	homozygous	88%	☆☆☆☆	drug response	Tramadol response	829165
OPRM1	rs675026	6	GG	G	homozygous	78%	☆☆☆☆	drug response	Tramadol response	829157
OPRM1	rs562859	6	TT	T	homozygous	75%	☆☆☆☆	drug response	Tramadol response	829156
TAS2R38	rs10246939	7	CT	C	heterozygous	52%	☆☆☆☆	drug response	Phenylthiocarbamide tasting	2906
TAS2R38	rs713598	7	GC	G	heterozygous	50%	☆☆☆☆	drug response	Phenylthiocarbamide tasting	2904
UGT2B7	rs7668258	4	TC	C	heterozygous	67%	☆☆☆☆	drug response	Tramadol response	828262
UGT2B7	rs7439326	4	TC	C	heterozygous	67%	☆☆☆☆	drug response	Tramadol response	829026
UGT2B7	rs7438244	4	AG	G	heterozygous	67%	☆☆☆☆	drug response	Tramadol response	828230

Risk factor (32; 1 with ≥2 stars)

Gene	rsID	Chr	Genotype	Variant allele	Zygosity	1000G freq	Review	ClinVar classification	Condition(s)	ClinVar ID
RET	rs2435357	10	CC	C	homozygous	76%	★★☆☆	Benign; risk factor	Hirschsprung disease, susceptibility to, 1; Aganglionic megacolon; Multiple endocrine neoplasia, type 2	13952
PTCSC2	rs965513	9	AG	G	heterozygous	80%	★☆☆☆	Established risk allele	Thyroid cancer, nonmedullary, 1	4077164
-	rs6548238	2	CC	C	homozygous	88%	☆☆☆☆	risk factor	Obesity	812169
-	rs7711080	5	GT	G	heterozygous	67%	☆☆☆☆	risk factor	Colorectal cancer	1342842
APOE	rs405509	19	GT	T	heterozygous	absent	☆☆☆☆	risk factor	Coronary artery disease, severe, susceptibility to	17877
CACNA1C	rs1006737	12	GA	A	heterozygous	30%	☆☆☆☆	Uncertain risk allele	Post-traumatic stress disorder	1722519
CDKAL1	rs7754840	6	GC	C	heterozygous	41%	☆☆☆☆	risk factor	Obesity	812171
CDKN2B-AS1	rs1333049	9	GC	C	heterozygous	42%	☆☆☆☆	risk factor	Three Vessel Coronary Disease	812642
CILP	rs2073711	15	AG	G	heterozygous	50%	☆☆☆☆	Benign; risk factor	Lumbar disc disease, susceptibility to; CILP-related disorder	6312
CYP3A5	rs776746	7	CC	C	homozygous	absent	☆☆☆☆	association; drug response; risk factor	Hypertension, salt-sensitive essential, susceptibility to; refractory myasthenia gravis; Tacrolimus response	5066
EPO	rs1617640	7	AA	A	homozygous	67%	☆☆☆☆	risk factor	Microvascular complications of diabetes, susceptibility to, 2	16602
ESR1	rs2234693	6	CT	C	heterozygous	45%	☆☆☆☆	risk factor	Myocardial infarction, susceptibility to	16594
FTO	rs1421085	16	CC	C	homozygous	23%	☆☆☆☆	risk factor	OBESITY (BMIQ14), SUSCEPTIBILITY TO	217824
IL10	rs1800896	1	CT	C	heterozygous	27%	☆☆☆☆	Uncertain risk allele	Leprosy, susceptibility to, 1; Hepatitis C virus, susceptibility to	1710531
IL13	rs1800925	5	CT	T	heterozygous	25%	☆☆☆☆	risk factor	Inherited susceptibility to asthma	14672
IL13	rs20541	5	GA	G	heterozygous	73%	☆☆☆☆	Benign; risk factor	Inherited susceptibility to asthma; Allergic rhinitis, susceptibility to; IL13-related disorder	14673
IL1B	rs1143627	2	GA	A	heterozygous	47%	☆☆☆☆	risk factor	Gastric cancer susceptibility after h. pylori infection	14671
KCNB2	rs2919408	8	AA	A	homozygous	73%	☆☆☆☆	risk factor	Colorectal cancer	1342844
KRT75	rs2232387	12	TC	T	heterozygous	14%	☆☆☆☆	Benign; risk factor	Pseudofolliculitis barbae; KRT75-related disorder	1891
LRP8	rs5174	1	TT	T	homozygous	14%	☆☆☆☆	risk factor	Myocardial infarction, susceptibility to, 1	6996
LTA	rs909253	6	GA	G	heterozygous	39%	☆☆☆☆	risk factor	Psoriatic arthritis, susceptibility to; Myocardial infarction, susceptibility to	14380
LTA	rs1041981	6	AC	A	heterozygous	39%	☆☆☆☆	Benign; risk factor	Myocardial infarction, susceptibility to; LTA-related disorder	14379
NFKBIL1	rs2071592	6	AT	A	heterozygous	38%	☆☆☆☆	risk factor	Rheumatoid arthritis	8475
NOD2	rs2111234	16	AA	A	homozygous	51%	☆☆☆☆	Uncertain risk allele	Leprosy, susceptibility to, 1	1710530
PTGER2	rs708494	14	AA	A	homozygous	32%	☆☆☆☆	risk factor	Asthma, aspirin-induced, susceptibility to	13360
SLC11A1	rs2276631	2	CT	T	heterozygous	17%	☆☆☆☆	risk factor	Mycobacterium tuberculosis, susceptibility to infection by	9232
TCF7L2	rs7903146	10	TT	T	homozygous	23%	☆☆☆☆	risk factor	Diabetes mellitus type 2, susceptibility to	7413
TCF7L2	rs11196205	10	CC	C	homozygous	44%	☆☆☆☆	risk factor	Diabetes mellitus type 2, susceptibility to	7415
TCF7L2	rs12255372	10	GT	T	heterozygous	21%	☆☆☆☆	risk factor	Diabetes mellitus type 2, susceptibility to	7414
TLR1	rs4833095	4	CT	C	heterozygous	57%	☆☆☆☆	Benign; risk factor	Leprosy, susceptibility to, 5; TLR1-related disorder	8361
UCP2	rs659366	11	CT	T	heterozygous	41%	☆☆☆☆	risk factor	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4	7865
XPNPEP2	rs3788853	X	CA	A	heterozygous	23%	☆☆☆☆	risk factor	Susceptibility to angioedema induced by ACE inhibitors	11567

Protective (1)

Gene	rsID	Chr	Genotype	Variant allele	Zygosity	1000G freq	Review	ClinVar classification	Condition(s)	ClinVar ID
NOS3	rs2070744	7	CT	T	heterozygous	77%	★☆☆☆	protective	Metabolic syndrome, susceptibility to	517660

Association (45)

Gene	rsID	Chr	Genotype	Variant allele	Zygosity	1000G freq	Review	ClinVar classification	Condition(s)	ClinVar ID
-	rs7675998	4	GG	G	homozygous	81%	☆☆☆☆	association	Chronic osteomyelitis	375483
ACYP2	rs11125529	2	AA	A	homozygous	13%	☆☆☆☆	association	Chronic osteomyelitis	375478
ADRB1	rs1801253	10	CC	C	homozygous	70%	☆☆☆☆	Benign; association	Pulmonary disease, chronic obstructive, susceptibility to; ADRB1-related disorder	17746
AGXT2	rs37369	5	TT	T	homozygous	39%	☆☆☆☆	Affects	Beta-aminoisobutyric acid, urinary excretion of	427577
ART4	rs11276	12	TC	T	heterozygous	29%	☆☆☆☆	Benign; Affects	Blood group, Dombrock system; ART4-related disorder	17730
BMAL2	rs4964059	12	CA	C	heterozygous	28%	☆☆☆☆	association	Pulmonary disease, chronic obstructive, susceptibility to; Hepatocellular carcinoma	1693591
CDK6	rs42034	7	GA	G	heterozygous	14%	☆☆☆☆	association	Behcet disease	1321244
CYP2C8	rs10509681	10	TC	C	heterozygous	5%	☆☆☆☆	Benign; association	Pulmonary disease, chronic obstructive, susceptibility to; CYP2C8-related disorder	375654
CYP2C9	rs1856908	10	GG	G	homozygous	61%	☆☆☆☆	association	Pulmonary disease, chronic obstructive, susceptibility to	1693614
CYP2E1	rs6413432	10	TA	A	heterozygous	16%	☆☆☆☆	association	CYP2E1*6 ALLELE	16888
CYP4A22	rs10789501	1	TC	C	heterozygous	58%	☆☆☆☆	association	Pulmonary disease, chronic obstructive, susceptibility to	1693611
FAM13A	rs2609255	4	TT	T	homozygous	65%	☆☆☆☆	Uncertain significance; association	Interstitial lung disease 2; Chronic obstructive pulmonary disease; Combined pulmonary fibrosis-emphysema syndrome; Susceptibility to severe coronavirus disease	1162779
FAM13A	rs1903003	4	TT	T	homozygous	60%	☆☆☆☆	association	Chronic obstructive pulmonary disease	1027617
HERC2	rs12913832	15	GG	G	homozygous	18%	☆☆☆☆	association	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	4745
HERC2	rs916977	15	CC	C	homozygous	39%	☆☆☆☆	Affects	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	4744
HERC2	rs1667394	15	TT	T	homozygous	38%	☆☆☆☆	association	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES	4743
HHIP	rs13147758	4	GG	G	homozygous	29%	☆☆☆☆	association	Chronic obstructive pulmonary disease; Chronic obstructive pulmonary disease, biomass related	870129
HHIP	rs13118928	4	GG	G	homozygous	30%	☆☆☆☆	association	Chronic obstructive pulmonary disease; Chronic obstructive pulmonary disease, biomass related	870130
HSPA1B	rs2763979	6	TC	T	heterozygous	45%	☆☆☆☆	association	Chronic obstructive pulmonary disease	694519
IL18R1	rs3771172	2	TT	T	homozygous	23%	☆☆☆☆	association	Ascending aortic dissection	1120027
IL18RAP	rs887971	2	CC	C	homozygous	30%	☆☆☆☆	association	Ascending aortic dissection	1120024
IL1B	rs1143634	2	AG	A	heterozygous	13%	☆☆☆☆	Benign; Affects; association; other	Antisynthetase syndrome; Endometriosis; Cholangiocarcinoma; IL1B-related disorder	869137
IL1B	rs16944	2	AG	G	heterozygous	49%	☆☆☆☆	association	Antisynthetase syndrome	869138
IL1B	rs1143623	2	GC	G	heterozygous	29%	☆☆☆☆	association	Antisynthetase syndrome	869139
KITLG	rs642742	12	CT	T	heterozygous	40%	☆☆☆☆	Affects	SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN	12812
LIPC	rs1800588	15	TC	T	heterozygous	39%	☆☆☆☆	association	High density lipoprotein cholesterol level quantitative trait locus 12	14453
MCM6	rs4988235	2	AA	A	homozygous	16%	☆☆☆☆	association	LACTASE PERSISTENCE	7685
MGST1	rs1913263	12	AG	A	heterozygous	63%	☆☆☆☆	association	Pulmonary disease, chronic obstructive, susceptibility to	1693600
MGST3	rs957644	1	TC	T	heterozygous	22%	☆☆☆☆	association	Pulmonary disease, chronic obstructive, susceptibility to	1693610
P2RY11	rs2305795	19	AG	A	heterozygous	66%	☆☆☆☆	association	Cataplexy and narcolepsy	180728
PADI2	rs2057094	1	TT	T	homozygous	50%	☆☆☆☆	association	Rheumatoid arthritis;Abnormal pulmonary interstitial morphology	972889
PADI2	rs1005753	1	TG	T	heterozygous	60%	☆☆☆☆	association	Rheumatoid arthritis;Abnormal pulmonary interstitial morphology	972891
PPAN	rs1551570	19	TC	T	heterozygous	67%	☆☆☆☆	association	Cataplexy and narcolepsy	180725
RNF212	rs1670533	4	AA	A	homozygous	77%	☆☆☆☆	association	RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1	736
RNF212	rs3796619	4	GG	G	homozygous	52%	☆☆☆☆	association	RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1	735
SLC24A4	rs12896399	14	TT	T	homozygous	26%	☆☆☆☆	association	SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR	1420
SLC2A9	rs6449213	4	TT	T	homozygous	86%	☆☆☆☆	association	Uric acid concentration, serum, quantitative trait locus 2	4594
SLCO3A1	rs12899055	15	CC	C	homozygous	60%	☆☆☆☆	association	Vascular endothelial growth factor (VEGF) inhibitor response	1691116
SORT1	rs12740374	1	TG	T	heterozygous	20%	☆☆☆☆	association	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6	7081
SPNS2	rs7213707	17	GG	G	homozygous	65%	☆☆☆☆	association	Vascular endothelial growth factor (VEGF) inhibitor response	1691123
TERT	rs2735940	5	GG	G	homozygous	47%	☆☆☆☆	Uncertain significance; association	Chronic osteomyelitis; Coronary artery disease, susceptibility to	375479
TPCN2	rs35264875	11	TA	T	heterozygous	10%	☆☆☆☆	association	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10	727
TPCN2	rs3829241	11	GA	A	heterozygous	18%	☆☆☆☆	association	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10	728
UGT1A1	rs6742078	2	GT	T	heterozygous	35%	☆☆☆☆	Benign; association	BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; Gilbert syndrome	12289
ZBTB46	rs755017	20	AG	G	heterozygous	27%	☆☆☆☆	association	Chronic osteomyelitis	375482

Conflicting classifications (40)

Gene	rsID	Chr	Genotype	Variant allele	Zygosity	1000G freq	Review	ClinVar classification	Condition(s)	ClinVar ID
ABCC8	rs2106865	11	TC	C	heterozygous	61%	★☆☆☆	Conflicting classifications of pathogenicity	Leucine-induced hypoglycemia; Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, transient neonatal, 2; Diabetes mellitus, permanent neonatal 3; Mat	157694
ABCC8	rs1799857	11	AA	A	homozygous	43%	★☆☆☆	Conflicting classifications of pathogenicity	Diabetes mellitus, transient neonatal, 2; Permanent neonatal diabetes mellitus; Hyperinsulinemic hypoglycemia, familial, 1; Hereditary hyperinsulinism; Leucine-	157684
AKAP9	rs73226383	7	GA	G	heterozygous	0.00%	★☆☆☆	Conflicting classifications of pathogenicity	Long QT syndrome; Cardiovascular phenotype; Long QT syndrome 11	191519
AMPD1	rs17602729	1	GA	A	heterozygous	4%	★☆☆☆	Conflicting classifications of pathogenicity; other	Muscle AMP deaminase deficiency; AMPD1-related disorder	18271
APOB	rs1801700	2	GA	A	heterozygous	2%	★☆☆☆	Conflicting classifications of pathogenicity	Hypercholesterolemia, familial, 1; Familial hypobetalipoproteinemia 1; Familial hypercholesterolemia; Hypercholesterolemia, autosomal dominant, type B; Hypercho	255981
ARFGEF2	rs73113975	20	TC	T	heterozygous	0.32%	★☆☆☆	Conflicting classifications of pathogenicity	Periventricular heterotopia with microcephaly, autosomal recessive	128433
BBS2	rs4784677	16	TT	T	homozygous	100%	★☆☆☆	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 2; Bardet-Biedl syndrome; Retinitis pigmentosa 74; Retinal dystrophy	285261
BCHE	rs1803274	3	TC	T	heterozygous	16%	★☆☆☆	Conflicting classifications of pathogenicity	Butyrylcholinesterase activity; Deficiency of butyrylcholinesterase	13220
CCDC170	rs55868409	6	AG	A	heterozygous	0.22%	★☆☆☆	Conflicting classifications of pathogenicity		993917
CYP4V2	rs55678259	4	AC	C	heterozygous	1%	★☆☆☆	Conflicting classifications of pathogenicity	Bietti crystalline corneoretinal dystrophy	903416
DES	rs41272699	2	TC	T	heterozygous	0.54%	★☆☆☆	Conflicting classifications of pathogenicity	Congenital diaphragmatic hernia; Myofibrillar myopathy; Cardiovascular phenotype; Dilated cardiomyopathy 1I; Neurogenic scapuloperoneal syndrome, Kaeser type; D	44265
ENPP1	rs1044498	6	CA	C	heterozygous	34%	★☆☆☆	Conflicting classifications of pathogenicity	Insulin resistance, susceptibility to; Obesity; Arterial calcification, generalized, of infancy, 1; Hypophosphatemic rickets, autosomal recessive, 2; Diabetes m	13589
F13A1	rs5982	6	AG	A	heterozygous	24%	★☆☆☆	Conflicting classifications of pathogenicity	Factor XIII, A subunit, deficiency of; Hereditary factor XIII deficiency disease	255183
F13A1	rs5985	6	AC	A	heterozygous	15%	★☆☆☆	Conflicting classifications of pathogenicity	Myocardial infarction, protection against; Venous thrombosis, protection against; Factor XIII, A subunit, deficiency of	16532
F5	rs6030	1	CC	C	homozygous	31%	★☆☆☆	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance; Congenital factor V deficiency	255210
F5	rs4524	1	CT	C	heterozygous	27%	★☆☆☆	Conflicting classifications of pathogenicity	Thrombophilia due to activated protein C resistance; Congenital factor V deficiency	255200
GATA4	rs3729856	8	GG	G	homozygous	4%	★☆☆☆	Conflicting classifications of pathogenicity	Cardiovascular phenotype; Atrioventricular septal defect 4; Neonatal insulin-dependent diabetes mellitus	44334
HNF1A	rs56348580	12	CG	C	heterozygous	18%	★☆☆☆	Conflicting classifications of pathogenicity	Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Maturity-onset diabetes of the young; Nonpapillary renal cell carcinoma	129236
HNF4A	rs3746574	20	CC	C	homozygous	38%	★☆☆☆	Conflicting classifications of pathogenicity	Maturity-onset diabetes of the young	676884
KCNH2	rs36210421	7	CA	A	heterozygous	0.88%	★☆☆☆	Conflicting classifications of pathogenicity	Torsades de pointes; Sudden unexplained death; Long QT syndrome 2; Cardiovascular phenotype; Long QT syndrome; Cardiac arrhythmia; KCNH2-related disorder	36429
LRRK2	rs7308720	12	GC	G	heterozygous	10%	★☆☆☆	Conflicting classifications of pathogenicity	Autosomal dominant Parkinson disease 8	39139
MARVELD2	rs72773422	5	TA	A	heterozygous	0.00%	★☆☆☆	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 49	178409
MCOLN1	rs73003348	19	CT	T	heterozygous	0.24%	★☆☆☆	Conflicting classifications of pathogenicity	Mucolipidosis type IV; Lisch epithelial corneal dystrophy;Mucolipidosis type IV	283177
MEFV	rs3743930	16	GC	G	heterozygous	13%	★☆☆☆	Conflicting classifications of pathogenicity	Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant; S	2542
MYO15A	rs55688805	17	GA	A	heterozygous	0.06%	★☆☆☆	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 3; MYO15A-related disorder	178446
MYO3A	rs72787346	10	CT	T	heterozygous	0.08%	★☆☆☆	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 30; MYO3A-related disorder	45799
NEK1	rs34324114	4	CA	C	heterozygous	0.14%	★☆☆☆	Conflicting classifications of pathogenicity	Motor neuron disease; Short-rib thoracic dysplasia 6 with or without polydactyly	266051
NOTCH1	rs150343794	9	CA	A	heterozygous	0.06%	★☆☆☆	Conflicting classifications of pathogenicity	Adams-Oliver syndrome 5; Connective tissue disorder; Familial thoracic aortic aneurysm and aortic dissection; NOTCH1-related disorder	134937
PCSK9	rs2479409	1	AG	A	heterozygous	60%	★☆☆☆	Conflicting classifications of pathogenicity	Hypercholesterolemia, familial, 1; Hypercholesterolemia, autosomal dominant, 3	440703
PCSK9	rs509504	1	GG	G	homozygous	98%	★☆☆☆	Conflicting classifications of pathogenicity	Hypercholesterolemia, familial, 1; Hypobetalipoproteinemia; Hypercholesterolemia, autosomal dominant, 3; Cardiovascular phenotype; Familial hypercholesterolemia	262899
SMCHD1	rs72862973	18	AG	G	heterozygous	0.02%	★☆☆☆	Conflicting classifications of pathogenicity	Facioscapulohumeral muscular dystrophy 2	260630
TBX6	rs3809627	16	CA	A	heterozygous	46%	★☆☆☆	Conflicting classifications of pathogenicity	Spondylocostal dysostosis 5; Fetal anomalies with a likely genetic cause	427809
TNNT2	rs45520032	1	AG	G	heterozygous	0.00%	★☆☆☆	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1D;Cardiomyopathy, familial restrictive, 3;Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Cardiovascular phenoty	181604
UGT1A8	rs7586110	2	TG	G	heterozygous	30%	★☆☆☆	Conflicting classifications of pathogenicity		440384
VDR	rs7975232	12	AA	A	homozygous	52%	★☆☆☆	Conflicting classifications of pathogenicity	Vitamin D-dependent rickets type II with alopecia; Hepatocellular carcinoma; Periodontitis	1252227
VWF	rs55687637	12	GA	G	heterozygous	0.48%	★☆☆☆	Conflicting classifications of pathogenicity	Hereditary von Willebrand disease; von Willebrand disease type 1	256701
WFS1	rs1801214	4	TT	T	homozygous	73%	★☆☆☆	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 6; WFS1-Related Spectrum Disorders; Type 2 diabetes mellitus	45437
covers 10 genes, none of which curated to show dosage sensitivity	rs4124874	2	TG	G	heterozygous	59%	★☆☆☆	Conflicting classifications of pathogenicity	Gilbert syndrome, susceptibility to; Gilbert syndrome; Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II; UGT1A8-related c	12288
SOD2	rs4880	6	GA	G	heterozygous	41%	☆☆☆☆	Conflicting classifications of pathogenicity; risk factor	SOD2 POLYMORPHISM; Microvascular complications of diabetes, susceptibility to, 6	14751
TLR2	rs3804099	4	CC	C	homozygous	41%	☆☆☆☆	Conflicting classifications of pathogenicity	TLR2-related disorder; COVID-19–associated multisystem inflammatory syndrome in adults	3060911

Uncertain significance (23)

Gene	rsID	Chr	Genotype	Variant allele	Zygosity	1000G freq	Review	ClinVar classification	Condition(s)	ClinVar ID
APOA2	rs5082	1	GA	A	heterozygous	76%	★☆☆☆	Uncertain significance	Hypercholesterolemia, familial, 1; Apolipoprotein A-II amyloidosis	17936
CCL2	rs1024611	17	AG	G	heterozygous	36%	★☆☆☆	Uncertain significance	Spina bifida, susceptibility to; CCL2-related disorder	14207
ESR1	rs9340799	6	GA	G	heterozygous	28%	★☆☆☆	Uncertain significance	Estrogen resistance syndrome; Scoliosis, isolated, susceptibility to, 1	3899918
G6PD	rs1050757	X	TT	T	homozygous	absent	★☆☆☆	Uncertain significance	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	1722702
H1-3	rs2050949	6	TC	T	heterozygous	9%	★☆☆☆	Uncertain significance		4674601
TBX21	rs4794067	17	CT	C	heterozygous	25%	★☆☆☆	Uncertain significance	Asthma, aspirin-induced, susceptibility to; Asthma and nasal polyps; Immunodeficiency 88	5321
-	rs854936	22	TT	T	homozygous	83%	☆☆☆☆	Uncertain significance	Head and neck cancer	813016
ABCC1	rs4148350	16	TT	T	homozygous	7%	☆☆☆☆	Uncertain significance	Familial cancer of breast	126854
ABCC1	rs35626	16	TT	T	homozygous	42%	☆☆☆☆	Uncertain significance	Familial cancer of breast	126856
ARHGAP9	rs11544238	12	CA	C	heterozygous	37%	☆☆☆☆	Uncertain significance	Coronary artery spasm 3, susceptibility to	1189
BANK1	rs10516487	4	AG	A	heterozygous	22%	☆☆☆☆	Uncertain significance	Variant of unknown significance	1269
CDKAL1	rs10946398	6	AC	C	heterozygous	41%	☆☆☆☆	Uncertain significance	Type 2 diabetes mellitus	986
CDKAL1	rs7756992	6	AG	G	heterozygous	41%	☆☆☆☆	Uncertain significance	Type 2 diabetes mellitus	987
CRP	rs1205	1	TC	T	heterozygous	34%	☆☆☆☆	Uncertain significance	Inflammation	1692995
DENND3	rs2289001	8	TT	T	homozygous	29%	☆☆☆☆	Uncertain significance	Aganglionic megacolon	691405
EN2	rs1861973	7	CC	C	homozygous	76%	☆☆☆☆	Uncertain significance	Autism, susceptibility to, 10	16632
GLO1	rs4746	6	TG	G	heterozygous	29%	☆☆☆☆	Uncertain significance	Autism, susceptibility to, 1	16037
LBP	rs2232613	20	CT	T	heterozygous	5%	☆☆☆☆	Uncertain significance		155768
SCIMP	rs2641256	17	GG	G	homozygous	44%	☆☆☆☆	Uncertain significance	Head and neck cancer	813014
SHMT1	rs1979277	17	AG	A	heterozygous	23%	☆☆☆☆	Uncertain significance	Gastrointestinal stromal tumor	157592
TNFRSF1B	rs1061622	1	GT	G	heterozygous	19%	☆☆☆☆	Uncertain significance	Susceptibility to severe coronavirus disease (COVID-19); Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or	1048802
TNFRSF1B	rs3397	1	TT	T	homozygous	41%	☆☆☆☆	Uncertain significance	Susceptibility to severe coronavirus disease (COVID-19); Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or	1048803
TOLLIP	rs5743890	11	CT	C	heterozygous	5%	☆☆☆☆	Uncertain significance	Chronic obstructive pulmonary disease; Interstitial lung disease 2	1162780

Positions the chip didn't measure (imputed)

The same ClinVar match on imputed genotypes (63 records where you carry the variant allele). Shown: calls with genotype probability ≥ 0.99 (99% accurate in the masked check) that are pathogenic or have ≥ 2 review stars. Imputation can't recover rare variants reliably, so an empty pathogenic list here does not rule anything out. Genotype 0/1 = one copy, 1/1 = two copies of the variant allele.

Gene	rsID	Genotype	Probability	1000G freq	Review	ClinVar classification	Condition / drug
EPAS1	rs7557402	1/1	1.00	31%	★★★☆	drug response	Erythrocytosis, familial, 4; sorafenib response - Toxicity; EPAS1-related disorder; Hepatocellular carcinoma
VKORC1	rs9923231	0/1	1.00	36%	★★★☆	drug response	Warfarin response; phenprocoumon response - Toxicity; phenprocoumon response - Dosage; warfarin response - Toxicity; Venous thromboembolism;
HSD3B1	rs1047303	1/1	1.00	83%	★★☆☆	Benign; drug response	Androgen deprivation therapy response

4 · Paternal line: Y-chromosome haplogroup

This sample has no Y chromosome (inferred female), so the paternal line can't be read from it. A father's, brother's or paternal uncle's DNA would carry it.

5 · Ancestry compared with 1000 Genomes

In plain words: PCA arranges people on a map according to how similar their DNA is. People from the same part of the world cluster together. We draw 2,489 unrelated reference people from 26 world populations, then place you on the same map. ADMIXTURE then estimates what share of your DNA looks most like each continental group.

200,087 LD-pruned SNPs shared between your chip and the reference. Principal components were computed on the reference only; everyone, including you, was then projected with the same weights.

World map (PC1 vs PC2)

Grey dots are reference individuals; labels mark the centre of each continental group. Nearest group: EUR.

Code	Population	Distance from you (PC1–4)	Typical spread within population
EUR	European	0.0092	0.0051
AMR	Admixed American	0.1422	0.0468
SAS	South Asian	0.1674	0.0088
EAS	East Asian	0.2738	0.0039

Within Europe (PC1 vs PC2, European reference only)

The same idea, zoomed in to the five European populations. In this data PC1 separates Finns (centre -0.080) from everyone else, and PC2 separates the north-west (CEU -0.031, GBR -0.039) from the south (IBS +0.010, TSI +0.033). On a PCA computed with you included (no projection bias), the most similar of these five is CEU (Utah residents with Northern & Western European ancestry). A test of fit gives p = 0.969 (a small p means "none of these"): you fit within the range of that population.

Continental proportions (supervised ADMIXTURE)

Each reference person is fixed to their own continental group: 20 random people from each of that continent's populations, 100 per group. The Admixed American group and the admixed African-Caribbean (ACB) and African-American (ASW) samples are left out because they are themselves mixtures. Largest component: European, 100.0% (bootstrap SE 0.0 points). Components below about 1–2% are within the method's noise. An earlier version took the first 100 reference people by ID, which were mostly African-Caribbean; it reported 1.9% "African".

African 0.0%East Asian 0.0%European 100.0%South Asian 0.0%

Sanity check: the same model on the reference groups

Reference group	EUR	EAS	SAS	AFR
AFR	0.0%	0.0%	0.0%	100.0%
EAS	0.0%	100.0%	0.0%	0.0%
EUR	100.0%	0.0%	0.0%	0.0%
SAS	0.0%	0.0%	100.0%	0.0%

6 · Ancestry against present-day West Eurasian populations

In plain words: 42 present-day European, Anatolian and Caucasus populations, many more than 1000 Genomes has. Two independent methods ask which populations your DNA resembles most. A third check asks how well the data can tell each population apart at all. Result: your closest match is English, then Norwegian (Northern & Western Europe).

Reference: Allen Ancient DNA Resource (AADR) v66, present-day individuals genotyped on the Affymetrix Human Origins array (861 people; shotgun-sequenced genomes left out so everyone was measured the same way). Only positions typed on both arrays were used, each checked for strand: 57,669 kept, 0 strand-flipped, 0 strand-ambiguous. 40,344 SNPs after LD pruning. A population missing from this reference shows up as its nearest available neighbour, so read a population name as "most similar of these", not as an origin.

Method 1: membership probability on the genetic map

You are placed on the PCA map together with the reference people, not projected onto it afterwards, because projection pulls a single sample toward the centre. Only the 10 components that rise above random noise are used (Marchenko–Pastur limit). A linear discriminant analysis then gives the probability that you belong to each group, if you belong to one of them; such probabilities tend to be overconfident, so read them as a ranking. Pooled groups: South Slavic (Croatian, Croatian Serb, Serbian Serb, Montenegrin Serb, Bosnian Serb); East Slavic (Ukrainian, Ukrainian North, Belarusian, Russian). The last column is the check: how often that group's own members are assigned back to it when left out.

Group	Region	n	Your membership probability	Own members recognised
English	Northern & Western Europe	10	0.78	90%
Norwegian	Northern & Western Europe	11	0.17	36%
Icelandic	Northern & Western Europe	12	0.03	33%
French	Northern & Western Europe	60	0.02	47%
Orcadian	Northern & Western Europe	13	0.01	54%
Hungarian	Central Europe	20	0.00	75%

By region: Northern & Western Europe 1.00, Central Europe 0.00, Southeast Europe & Balkans 0.00. Fit test for your best group: p = 0.94 (a small p would mean "none of these").

Method 2: how likely your genotypes are under each group's allele frequencies

No map involved. Every group is cut down to 10 random people, 100 times, so larger groups don't win simply by having better-estimated frequencies. "Ranked first" is how often a group came out top.

Group	n	Ranked first	Mean log-likelihood gap to best
English	10	32%	-36
French	60	40%	-45
Hungarian	20	27%	-52
Icelandic	12	1%	-72
Norwegian	11	0%	-85
Czech	10	0%	-99

How far can labels go? Leave-one-out accuracy

For the populations closest to you (before pooling): the share of each group's own members the method recognises when they are left out. The most distinct groups in the reference score Adygei 100%, Armenian 100%, Basque 100%. Among the groups closest to you, Norwegian, Icelandic, French, Orcadian, Croatian are recognised less than 60% of the time, so labels finer than their region are not supported.

Group	n	Own members recognised
English	10	90%
Norwegian	11	36%
Icelandic	12	33%
French	60	47%
Orcadian	13	54%
Hungarian	20	65%
Czech	10	70%
Croatian	9	11%

The map (for orientation only)

West Eurasian PCA with you projected onto it. Distances on this picture are distorted (see above), so read it as a picture, not a measurement.

Regional zoom: Northern and Western Europe

PCA recomputed on these groups only. 0 outlying reference individuals (more than 6 SD on PC1–4) removed; axes show the central 98%. 4 component(s) rise above noise here.

7 · Pharmacogenomics (PharmCAT)

In plain words: some genes control how fast your body activates or clears particular medicines. Clinical guidelines (CPIC) turn a confirmed gene result into advice like "use a lower dose". Nothing here is a prescription. These results are only worth raising with a doctor if you're prescribed one of the listed drugs, and a clinic would confirm them with a dedicated test first. Many non-"normal" results are common: CYP3A5 *3/*3, for example, is the genotype of 89% of 1000 Genomes Europeans (448 of 503).

PharmCAT 3.1.1 (data 2025-11-05-00-25), run on your genome lifted to GRCh38. Before PharmCAT sees the data, four rules apply, each listed in the "Based on" column: (1) imputed genotypes below 99% probability are treated as missing; (2) a measured two-copy call of an allele rarer than 1% is treated as a chip artefact and masked; (3) 32 measured positions that 1000 Genomes lacks are added when they read reference (confirming an allele is absent); (4) positions GRCh38 renumbered are rescued rather than dropped. Genotypes are passed unphased, so PharmCAT lists every diplotype that fits. G6PD uses your measured X calls. CYP2D6 is not in this table: it depends on whole-gene deletions and duplications that arrays can't measure.

CYP2D6, research grade only: PharmCAT's research mode, which ignores copy number, reads *1/*4 (Intermediate Metabolizer). A deletion (*5) or duplication would change this, and neither is visible here, so no drug recommendation uses it.

Gene	Diplotype	Phenotype	Based on (sites)
ABCG2	rs2231142 reference (G)/rs2231142 reference (G)	Normal Function	1 measured
CACNA1S	–	No Result	no call: too few defining positions available
CFTR	ivacaftor non-responsive CFTR sequence/ivacaftor non-responsive CFTR sequence	ivacaftor non-responsive in CF patients	12 measured, 1 imputed (GP ≥ 0.99), 2 measured, not in 1000G, 63 masked, 78 missing
CYP2B6	1/1	Normal Metabolizer	10 measured, 15 imputed (GP ≥ 0.99), 1 measured, not in 1000G, 1 masked, 22 missing
CYP2C19	1/2 Unphased data also fit 2/5 (Poor Metabolizer), 2/6 (Poor Metabolizer), 2/7 (Poor Metabolizer).	Intermediate Metabolizer	10 measured, 6 imputed (GP ≥ 0.99), 1 rescued in liftover, 8 masked, 19 missing
CYP2C9	1/2	Intermediate Metabolizer	7 measured, 9 imputed (GP ≥ 0.99), 2 measured, not in 1000G, 3 masked, 65 missing
CYP2D6	–	No Result	no call: too few defining positions available
CYP3A4	1/1	Normal Metabolizer	8 measured, 8 imputed (GP ≥ 0.99), 1 measured, not in 1000G, 2 masked, 25 missing
CYP3A5	3/3	Poor Metabolizer	2 measured, 1 imputed (GP ≥ 0.99), 1 rescued in liftover, 6 masked, 2 missing
CYP4F2	1/1	–	4 measured, 9 imputed (GP ≥ 0.99), 4 masked, 7 missing
DPYD		ambiguous: Indeterminate	15 measured, 11 imputed (GP ≥ 0.99), 2 measured, not in 1000G, 1 rescued in liftover, 330 masked, 55 missing
G6PD	B (reference)/B (reference)	Normal	21 measured, 150 missing
HLA-A	01:01/11:01	*31:01 not predicted	imputed HLA type (section 8), not a clinical HLA test
HLA-B	08:01/56:01	15:02 not predicted; 57:01 not predicted; *58:01 not predicted	imputed HLA type (section 8), not a clinical HLA test
IFNL3	rs12979860 reference (C)/rs12979860 variant (T)	n/a	1 measured
MT-RNR1	–	No Result	no call: too few defining positions available
NAT2	4/5	Intermediate Metabolizer	12 measured, 3 imputed (GP ≥ 0.99), 1 measured, not in 1000G, 31 missing
NUDT15	1/1	Normal Metabolizer	3 measured, 1 imputed (GP ≥ 0.99), 1 masked, 14 missing
RYR1	Reference/Reference	Uncertain Susceptibility	12 measured, 10 imputed (GP ≥ 0.99), 2 measured, not in 1000G, 123 masked, 289 missing
SLCO1B1	1/15 Unphased data also fit 5/37 (Decreased Function), 5/42 (Possible Decreased Function), 5/52 (–).	Decreased Function	12 measured, 8 imputed (GP ≥ 0.99), 31 masked, 15 missing
TPMT	1/1	Normal Metabolizer	5 measured, 2 imputed (GP ≥ 0.99), 4 masked, 36 missing
UGT1A1	1/80+28 Unphased data also fit 28/*80 (Indeterminate).	Intermediate Metabolizer	3 measured, 1 imputed (GP ≥ 0.99)
VKORC1	rs9923231 reference (C)/rs9923231 variant (T)	-1639 AG	1 imputed (GP ≥ 0.99)

Notes. CYP2C19 *38 is the current name for the reference allele (formerly *1). UGT1A1 *28 is a repeat the chip can't measure; it is only ever inferred from nearby variants. Where the unphased data fit more than one diplotype, the alternatives are listed with their phenotypes. Statistical phasing from imputation supports the listed one, but only family or long-read data can prove it.

For a prescriber, after confirmatory testing: CPIC recommendations (25)

Only recommendations from unambiguous, non-"normal" calls for the general population, de-duplicated. 12 further CPIC rows were left out because they rest on ambiguous, indeterminate or uncertain calls.

Drug	Result used	Strength	CPIC recommendation
atazanavir	UGT1A1: Intermediate Metabolizer	Strong	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).
atorvastatin	SLCO1B1: Decreased Function	Moderate	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).
celecoxib	CYP2C9: Intermediate Metabolizer	Moderate	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.
citalopram	CYP2C19: Intermediate Metabolizer	Moderate	Initiate therapy with recommended starting dose. Consider a slower titration schedule and lower maintenance dose than normal metabolizers.
dexlansoprazole	CYP2C19: Intermediate Metabolizer	Optional	Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy.
escitalopram	CYP2C19: Intermediate Metabolizer	Moderate	Initiate therapy with recommended starting dose. Consider a slower titration schedule and lower maintenance dose than normal metabolizers.
flurbiprofen	CYP2C9: Intermediate Metabolizer	Moderate	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.
fluvastatin	CYP2C9: Intermediate Metabolizer, SLCO1B1: Decreased Function	Optional	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).
hydralazine	NAT2: Intermediate Metabolizer	Moderate	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.
ibuprofen	CYP2C9: Intermediate Metabolizer	Moderate	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.
ivacaftor	CFTR: ivacaftor non-responsive in CF patients	Moderate	Ivacaftor is not recommended
lansoprazole	CYP2C19: Intermediate Metabolizer	Optional	Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy.
lornoxicam	CYP2C9: Intermediate Metabolizer	Moderate	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.
lovastatin	SLCO1B1: Decreased Function	Moderate	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.
meloxicam	CYP2C9: Intermediate Metabolizer	Moderate	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.
omeprazole	CYP2C19: Intermediate Metabolizer	Optional	Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy.
pantoprazole	CYP2C19: Intermediate Metabolizer	Optional	Initiate standard starting daily dose. For chronic therapy (>12 weeks) and efficacy achieved, consider 50% reduction in daily dose and monitor for continued efficacy.
piroxicam	CYP2C9: Intermediate Metabolizer	Moderate	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.
pitavastatin	SLCO1B1: Decreased Function	Moderate	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).
pravastatin	SLCO1B1: Decreased Function	Moderate	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.
rosuvastatin	ABCG2: Normal Function, SLCO1B1: Decreased Function	Strong	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.
sertraline	CYP2B6: Normal Metabolizer, CYP2C19: Intermediate Metabolizer	Moderate	Initiate therapy with recommended starting dose. Consider a slower titration schedule and lower maintenance dose.
simvastatin	SLCO1B1: Decreased Function	Strong	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.
tacrolimus	CYP3A5: Poor Metabolizer	Strong	Initiate therapy with standard recommended dose. Use therapeutic drug monitoring to guide dose adjustments.
tenoxicam	CYP2C9: Intermediate Metabolizer	Moderate	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.

The full PharmCAT report (all drugs; DPWG and FDA sources; missing positions) is in pharmcat/pharmcat.report.html.

8 · HLA types

In plain words: HLA genes build the "ID badges" your immune system uses to tell self from foreign. They are the most variable genes in the genome. A few specific HLA types matter medically: some predict severe reactions to particular drugs, and some are required for certain autoimmune conditions to develop.

Imputed with HIBAG 1.48.2 from your raw chip genotypes (not the imputed ones), using the published model for the Illumina Global Screening Array v2.0, European ancestry, two-field resolution. "Posterior" is the model's confidence in the pair.

Gene	Your alleles	Posterior	Model SNPs found
HLA-A	01:01 / 11:01	1.00	864/880
HLA-B	08:01 / 56:01	0.99	762/791
HLA-C	01:02 / 07:01	1.00	812/841
HLA-DRB1	01:01 / 03:01	0.99	767/777
HLA-DQA1	01:01 / 05:01	1.00	800/812
HLA-DQB1	02:01 / 05:01	1.00	825/837
HLA-DPB1	04:01 / 14:01	0.89	510/521

Coeliac disease: you carry DQ2.5. ARUP Laboratories' interpretation table rates a result "Negative for DQ2 and DQ8" as "Not at risk"; in plain terms, coeliac disease is very unlikely. This rests on imputed DQB1 types (posterior 1.00), not a clinical HLA test. (DQ2.5 = DQA1*05 with DQB1*02; DQ2.2 = DQA1*02 with DQB1*02; DQ8 = DQB1*03:02, per ARUP.)
HLA-B27 (ankylosing spondylitis): not present. ARUP: "80-90% of AS patients are HLA-B27 positive, compared to 5-10% of the general population"; a negative result "does not rule out AS".
Drug hypersensitivity HLA types (HLA-A and -B): passed to PharmCAT, which reports whether the high-risk alleles are predicted. An imputed HLA type is not accepted in place of a clinical HLA test before prescribing.

9 · Polygenic scores

In plain words: a polygenic score adds up thousands to millions of tiny genetic nudges into one number. The percentile says where you rank against a reference group: 70th means your score is higher than 70% of the reference people's. It is relative, not a risk. Someone at the 90th percentile for a condition that affects few people still most likely won't get it, and lifestyle, age and family history also matter.

Read these as a set. With 5 scores, the highest one is expected near the 83rd percentile by chance alone, so one high-looking score among five is not a signal by itself. How the comparison was made: you and the 502 1000 Genomes Europeans were cut down to your chip's positions and imputed together, identically, so both sides carry the same imputation effects. Your chip-artefact calls were removed first. The reference has only five European populations (British, Finnish, Iberian, Tuscan, Utah residents of northern/western European ancestry); the range across them shows how much the choice of comparison group moves your percentile. The scores were developed and validated mostly in people of European ancestry. The PGS Catalog lists their effect sizes without a consistent unit, so per-SD odds ratios and absolute risks are not given here.

Coronary artery disease

21stpercentile

95% interval 17–24 · range across the five European populations 2–34 · z = -0.80

PGS000018 · Inouye M 2018, J Am Coll Cardiol · 1,704,980 of 1,745,179 variants used (97% of total weight) · vs sequenced reference: 22.

Type 2 diabetes (T2D)

24thpercentile

95% interval 21–28 · range across the five European populations 14–40 · z = -0.76

PGS000014 · Khera AV 2018, Nat Genet · 6,840,903 of 6,917,436 variants used (98% of total weight) · vs sequenced reference: 23.

Atrial fibrillation

10thpercentile

95% interval 7–12 · range across the five European populations 3–23 · z = -1.27

PGS000016 · Khera AV 2018, Nat Genet · 6,666,360 of 6,730,541 variants used (99% of total weight) · vs sequenced reference: 7.

Colorectal cancer

44thpercentile

95% interval 40–49 · range across the five European populations 34–55 · z = -0.15

PGS000074 · Graff RE 2021, Nat Commun · 101 of 103 variants used (93% of total weight) · vs sequenced reference: 46.

Breast cancer

44thpercentile

95% interval 39–48 · range across the five European populations 40–51 · z = -0.18

PGS000004 · Mavaddat N 2018, Am J Hum Genet · 261 of 313 variants used (83% of total weight) · vs sequenced reference: 43.

10 · Traits & blood group

In plain words: a few traits depend strongly on one or two DNA letters. These are mostly for curiosity. Alpha-1 antitrypsin is the one with health relevance: ClinVar links the Z and S alleles to alpha-1 antitrypsin deficiency and chronic obstructive pulmonary disease.

Trait	SNP	Genotype	Effect allele	Effect allele means	Source
Lactose tolerance	LCT/MCM6 rs4988235	AA	2 × A	lactase persistence (can digest milk as an adult)	ClinVar 'LACTASE PERSISTENCE' (G>A); dbSNP rs4988235
Eye colour	HERC2 rs12913832	GG	2 × G	blue eyes (SNPedia: GG blue 99% of the time, AA brown 80%)	ClinVar 'BLUE/NONBLUE EYES' (A>G); SNPedia Rs12913832
Earwax type	ABCC11 rs17822931	CC	0 × T	dry earwax (TT); C is wet	ClinVar c.538G>A (C>T plus strand); SNPedia Rs17822931
Caffeine metabolism	CYP1A2 rs762551	AA	2 × A	CYP1A2*1F, faster (inducible) caffeine metabolism (SNPedia: AA)	ClinVar c.-9-154C>A; SNPedia Rs762551
Alcohol flush	ALDH2 rs671	GG	0 × A	ALDH2*2: alcohol flushing / hangover susceptibility	ClinVar c.1510G>A (drug response)
Alpha-1 antitrypsin (PiZ)	SERPINA1 rs28929474	CC	0 × T	Z allele (ClinVar: pathogenic for alpha-1 antitrypsin deficiency)	ClinVar c.1096G>A p.Glu366Lys, Pathogenic
Alpha-1 antitrypsin (PiS)	SERPINA1 rs17580	TT	0 × A	S allele (ClinVar: pathogenic, low penetrance, for alpha-1 antitrypsin deficiency)	ClinVar c.863A>T p.Glu288Val, Pathogenic/low penetrance

Bitter taste (TAS2R38): PAV/AVI (one taster, one non-taster haplotype). You are heterozygous at all three sites (rs713598 GC, rs1726866 GA, rs10246939 CT). PAV = rs713598 G, rs1726866 G, rs10246939 C (plus strand); the chip can't phase the three, so PAV/AVI assumes the two common haplotypes.
ABO: Blood group A (A/O): one B allele from rs8176746 = GG (measured); O-allele deletion rs8176719 imputed (dosage 1.00, genotype probability 1.00) → 1 O allele(s). No A2 allele (rs1053878 = GG). Rh (+/−) can't be read from SNPs.
Muscle fibre type: ACTN3 R577X (rs1815739, imputed with genotype probability 1.00): TT. T is the X (stop) allele, so you carry 2 X allele(s). ClinVar classes the X allele as benign ('Sprinting performance').

Not done yet, and why

CYP2D6 with copy number: needs the chip's raw intensity data (not in the MyHeritage export), sequencing, or a dedicated assay. The SNP-only call above is research grade.
gnomAD frequencies: the ClinVar tables use 1000 Genomes frequencies computed locally (2,504 people). A per-variant gnomAD lookup would reveal your variant positions to an outside service; a privacy-safe alternative (a bulk download of gnomAD frequencies for all ClinVar positions, independent of any genotype) is not implemented.
Any rare "pathogenic" call would need confirmation by a clinical lab; none here currently warrants it.