Source: HG002.child.g.vcf.gz · Annotators: ClinVar (GRCh37:2026-06-18; GRCh38:2026-06-18), ClinPGx (2026-06-18), GWAS Catalog (2026-06-09), SNPedia (scraped 2026-05-20 (104720 genotypes)), gnomAD (4.1), AlphaMissense (2023.2), CADD (v1.7) · Generated 2026-06-18 20:15 UTC
Some genes have known pseudogenes with high sequence similarity (e.g., PKD1 has six pseudogenes sharing >97% identity). Array-based genotyping probes can cross-hybridize, producing false genotype calls. If a result seems inconsistent with your health history, confirmatory testing by a different method is recommended.
ClinVar aggregates submissions from multiple sources. Different submitters may classify the same variant differently, and significance labels may be paired with conditions from a different submitter’s entry. Single-submitter entries carry less weight than expert-panel-reviewed classifications.
A variant classified as pathogenic in a recessive condition requires two copies to cause disease. If you are heterozygous (one copy), you are a carrier. Carrier status does not typically cause symptoms but may be relevant for family planning.
No genotyping platform is 100% accurate. Clinically significant findings should be confirmed with an independent method before making medical decisions.
Each annotation source uses its own criteria to assign a magnitude score (0–10) that reflects clinical importance. Higher scores warrant more attention. The score shown in the table is the maximum across all source annotations for that variant.
| 9 | Pathogenic |
| 8 | Pathogenic (single submitter / no assertion criteria) |
| 7 | Likely pathogenic |
| 5 | Uncertain significance / conflicting |
| 4 | Risk factor / drug response / association |
| 3 | Likely benign |
| 1 | Benign |
| 9 | Level 1A — CPIC guideline or FDA label |
| 8 | Level 1B — strong clinical evidence |
| 6 | Level 2A — moderate evidence |
| 5 | Level 2B — moderate (weaker replication) |
| 4 | Level 3 — low evidence or annotation only |
| 6 | p < 5×10-8 (genome-wide) |
| 4 | p < 5×10-6 (suggestive) |
| 3 | p < 1×10-4 (nominal) |
Magnitude is assigned directly by community editors (0–10 scale). Higher scores indicate greater clinical or personal relevance as judged by contributors. See SNPedia’s magnitude documentation for details.
CADD PHRED scores rank how deleterious a variant is relative to all possible human SNVs. Higher scores = more likely to be deleterious.
| ≥ 30 | Top 0.1% most deleterious |
| ≥ 20 | Top 1% most deleterious |
| ≥ 10 | Top 10% most deleterious |
| < 10 | Below top 10% |
DeepMind’s protein-structure-based pathogenicity prediction for missense variants. Score 0–1; higher = more likely pathogenic.
| ≥ 0.564 | Likely pathogenic |
| 0.340 – 0.564 | Ambiguous |
| < 0.340 | Likely benign |
| Mag▼ | Gene | GT | Repute | Summary |
|---|---|---|---|---|
| 9 | CASZ1 | CT | Neutral | [GWAS Catalog] Varicose veins |
| 9 | CDKN2B-AS1 | AG | Neutral | [GWAS Catalog +2] Coronary artery / coronary heart disease (including heart attack, angina) |
| 9 | CDKN2B-AS1 | GT | Neutral | [GWAS Catalog] Other chronic ischemic heart disease, unspecified |
| 9 | IL10 | CT | Bad | [ClinVar] Hepatitis C virus, susceptibility to |
| 9 | SYNE2, ESR2 | AG | Neutral | [GWAS Catalog] Atrial fibrillation |
| 9 | PRSS56 | AG | Neutral | [GWAS Catalog] Refractive error |
| 9 | CTLA4 - ICOS | AG | Neutral | [GWAS Catalog +1] Hypothyroidism |
| 9 | - | CG | Bad | [ClinVar] XG BLOOD GROUP SYSTEM, Xg(a-) PHENOTYPE |
| 9 | FANCA | CG | Neutral | [GWAS Catalog] Low tan response |
| 9 | GC | GT | Neutral | [GWAS Catalog] Vitamin deficiency |
| 9 | CDKN2B-AS1 | AG | Neutral | [GWAS Catalog +1] Coronary artery disease |
| 9 | ADRA2A | AG | Bad | [ClinVar] Lipodystrophy, familial partial, type 8 |
| 9 | FAS | CT | Neutral | [GWAS Catalog] Tumor necrosis factor receptor superfamily member 6 levels |
| 8 | VKORC1 | GG | Neutral | [ClinPGx +2] ClinPGx: warfarin — Patients with the rs8050894 GG genotype may require a lower dose of warfarin as compared to patients with the CC genotype. Other genetic and clinical factors may also influence warfarin dosage requirements. |
| 7 | NPHS1 | GTC/G | Bad | [ClinVar] Finnish congenital nephrotic syndrome |
| 7 | MTHFR | AG | Neutral | [ClinPGx +2] Arthritis, Psoriatic;Drug Toxicity;Juvenile Rheumatoid Arthritis;Rheumatoid arthritis |
| 6 | ABCB1 | TT | Neutral | [ClinVar] Tramadol response |
| 6 | CYP2D6 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | NPC1L1 | CT | Neutral | [ClinVar] Statins, attenuated cholesterol lowering by |
| 6 | ABCB1 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | CC | Neutral | [ClinVar] Tramadol response |
| 6 | UGT2B7 | AC | Neutral | [ClinVar] Tramadol response |
| 6 | UGT2B7 | AG | Neutral | [ClinVar] Tramadol response |
| 6 | HMGCR | CT | Neutral | [ClinVar] Statins, attenuated cholesterol lowering by |
| 6 | ABCB1 | CG | Neutral | [ClinVar] Tramadol response |
| 6 | FKBP5 | CT | Neutral | [ClinVar +3] Antidepressant drug treatment, accelerated response to |
| 6 | LAMB2 | CT | Neutral | [ClinVar] Corticosteroids response |
| 6 | COMT | AG | Neutral | [ClinVar] Tramadol response |
| 6 | COMT | TT | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | AT | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | TT | Neutral | [ClinVar] Tramadol response |
| 6 | CYP2D6 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | AG | Neutral | [ClinVar] Tramadol response |
| 6 | KIF6 | AG | Neutral | [ClinVar] pravastatin response - Efficacy |
| 6 | OPRM1 | CC | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | CC | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | AG | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | AG | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | CC | Neutral | [ClinVar] Tramadol response |
| 6 | DIO1 | AC | Neutral | [ClinVar +1] Levothyroxine response |
| 6 | CYP2D6 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | XRCC1 | CC | Neutral | [ClinVar +1] Platinum compounds response - Efficacy |
| 6 | UGT2B7 | AG | Neutral | [ClinVar] Tramadol response |
| 6 | CYP2D6 | GT | Neutral | [ClinVar] Tramadol response |
| 6 | CYP2D6 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | CYP2D6 | GT | Neutral | [ClinVar] Tramadol response |
| 6 | CYP2D6 | AG | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | AG | Neutral | [ClinVar] Tramadol response |
| 6 | CYP2D6 | AG | Neutral | [ClinVar] Tramadol response |
| 6 | SCN1A | CT | Neutral | [ClinVar +1] carbamazepine response - Dosage |
| 6 | ABCB1 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | APOE | GT | Neutral | [ClinVar +1] Warfarin response |
| 6 | UGT2B7 | CG | Neutral | [ClinVar] Tramadol response |
| 6 | UGT2B7 | AT | Neutral | [ClinVar] Tramadol response |
| 6 | APOE | CC | Neutral | [ClinVar] Warfarin response |
| 6 | ATIC | CT | Neutral | [ClinVar +1] methotrexate response - Efficacy |
| 6 | OPRM1 | GG | Neutral | [ClinVar] Tramadol response |
| 6 | OPRM1 | TT | Neutral | [ClinVar] Tramadol response |
| 6 | OPRM1 | TT | Neutral | [ClinVar] Tramadol response |
| 6 | OPRM1 | GG | Neutral | [ClinVar] Tramadol response |
| 6 | OPRM1 | GG | Neutral | [ClinVar] Tramadol response |
| 6 | UGT2B7 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | ITPA | AC | Neutral | [ClinVar +1] peginterferon alfa-2b and ribavirin response - Toxicity |
| 6 | CYP19A1 | AC | Neutral | [ClinVar] Letrozole response |
| 6 | APOE | CT | Neutral | [ClinVar +1] atorvastatin response - Efficacy |
| 6 | UGT2B7 | AG | Neutral | [ClinVar] Tramadol response |
| 6 | UGT2B7 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | UGT2B7 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | UGT2B7 | CT | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | AC | Neutral | [ClinVar] Tramadol response |
| 6 | ABCB1 | GG | Neutral | [ClinVar] Tramadol response |
| 6 | OPRM1 | CC | Neutral | [ClinVar] Tramadol response |
| 6 | LOXL1 | TT | Bad | [ClinVar] Exfoliation syndrome, susceptibility to |
| 6 | CDKN2B-AS1 | AG | Bad | [ClinVar] Three Vessel Coronary Disease |
| 6 | IRF5 | AA | Bad | [ClinVar] Systemic lupus erythematosus, susceptibility to, 10 |
| 6 | TCF7L2 | CC | Bad | [ClinVar] Diabetes mellitus type 2, susceptibility to |
| 6 | IL1B | AG | Bad | [ClinVar] Gastric cancer susceptibility after h. pylori infection |
| 6 | TCF7L2 | TT | Bad | [ClinVar +1] Diabetes mellitus type 2, susceptibility to |
| 6 | STOX1 | CT | Bad | [ClinVar] Preeclampsia/eclampsia 4 |
| 6 | EPO | AC | Bad | [ClinVar] Microvascular complications of diabetes, susceptibility to, 2 |
| 6 | USF1 | CT | Bad | [ClinVar] Hyperlipidemia, familial combined, susceptibility to |
| 6 | ECE1 | GT | Bad | [ClinVar] Hypertension, essential, susceptibility to |
| 6 | ECE1 | AC | Bad | [ClinVar] Hypertension, essential, susceptibility to |
| 6 | LOXL1 | CC | Bad | [ClinVar] Exfoliation syndrome, susceptibility to |
| 6 | XBP1 | CG | Bad | [ClinVar] MAJOR AFFECTIVE DISORDER 7, SUSCEPTIBILITY TO |
| 6 | CNTNAP2 | AG | Bad | [ClinVar] Autism, susceptibility to, 15 |
| 6 | KCNB2 | AA | Bad | [ClinVar] Colorectal cancer |
| 6 | AQP7 | CT | Bad | [ClinVar] OBESITY (BMIQ17), SUSCEPTIBILITY TO |
| 6 | TBXT | AG | Bad | [ClinVar] Neural tube defects, susceptibility to |
| 6 | MMP3 | G/GA | Bad | [ClinVar] Coronary heart disease, susceptibility to, 6 |
| 6 | USF1 | AG | Bad | [ClinVar] Hyperlipidemia, familial combined, susceptibility to |
| 6 | CD244 | CT | Bad | [ClinVar] Rheumatoid arthritis |
| 6 | SLC22A4 | TT | Bad | [ClinVar] Rheumatoid arthritis |
| 6 | CHI3L1 | CC | Bad | [ClinVar] Asthma-related traits, susceptibility to, 7 |
| 6 | CAPN10 | CT | Bad | [ClinVar] Type 2 diabetes mellitus 1, susceptibility to |
| 6 | RNF212 | CC | Bad | [ClinVar] Down syndrome |
| 6 | - | CC | Bad | [ClinVar] Obesity |
| 6 | PTGER2 | AG | Bad | [ClinVar] Asthma, aspirin-induced, susceptibility to |
| 6 | - | AA | Bad | [ClinVar] Obesity |
| 6 | LGALS2 | AG | Bad | [ClinVar] Myocardial infarction, susceptibility to |
| 6 | CD209 | AG | Bad | [ClinVar] Mycobacterium tuberculosis, susceptibility to |
| 6 | - | GT | Bad | [ClinVar] Colorectal cancer |
| 6 | CNTNAP2 | TT | Bad | [ClinVar +1] Autism, susceptibility to, 15 |
| 6 | TCF7L2 | TT | Bad | [ClinVar +1] Diabetes mellitus type 2, susceptibility to |
| 6 | HLA-C | CT | Bad | [ClinVar +1] HIV-1 VIREMIA, SUSCEPTIBILITY TO |
| 5 | PADI2 | GT | Neutral | [ClinVar] Rheumatoid arthritis;C5441745:Abnormal pulmonary interstitial morphology |
| 5 | TNFSF15 | CT | Neutral | [ClinVar] Leprosy, susceptibility to, 1 |
| 5 | IL1RL2 | CT | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | MGST1 | GT | Neutral | [ClinVar] Pulmonary disease, chronic obstructive, susceptibility to |
| 5 | ECPAS | CT | Neutral | [ClinVar] Vascular endothelial growth factor (VEGF) inhibitor response |
| 5 | CYP4A22 | CT | Neutral | [ClinVar] Pulmonary disease, chronic obstructive, susceptibility to |
| 5 | CYP2D6 | CG | Neutral | [ClinVar] not provided |
| 5 | - | CT | Neutral | [ClinVar] Chronic obstructive pulmonary disease |
| 5 | RNLS | AG | Neutral | [ClinVar] Family history |
| 5 | BMAL2 | AG | Neutral | [ClinVar] Pulmonary disease, chronic obstructive, susceptibility to |
| 5 | SLC35F1 | AG | Neutral | [ClinVar] Vascular endothelial growth factor (VEGF) inhibitor response |
| 5 | SULT1B1 | AG | Neutral | [ClinVar] Levothyroxine response |
| 5 | CD44 | CT | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | SLC9A4 | AG | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | P2RY11 | AG | Neutral | [ClinVar] Cataplexy and narcolepsy |
| 5 | HMGCR | AT | Neutral | [ClinVar] Low density lipoprotein cholesterol level quantitative trait locus 3 |
| 5 | IL1RL1 | AG | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | SLC24A4 | GT | Neutral | [ClinVar] SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR |
| 5 | SLCO3A1 | CC | Neutral | [ClinVar] Vascular endothelial growth factor (VEGF) inhibitor response |
| 5 | HERC2 | GG | Neutral | [ClinVar +1] SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
| 5 | IL18R1 | GT | Neutral | [ClinVar] Behcet disease |
| 5 | UMOD | AG | Neutral | [ClinVar] Essential hypertension |
| 5 | GRIK2 | CT | Neutral | [ClinVar] Lip and oral cavity carcinoma |
| 5 | DCT | CT | Neutral | [ClinVar] Age related macular degeneration 7 |
| 5 | LNX1 | CT | Neutral | [ClinVar] Lip and oral cavity carcinoma |
| 5 | SLC9A4 | CT | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | PPAN | CT | Neutral | [ClinVar] Cataplexy and narcolepsy |
| 5 | TMEM132D | CT | Neutral | [ClinVar] Vascular endothelial growth factor (VEGF) inhibitor response |
| 5 | IL18RAP | AT | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | CT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | HERC2 | TT | Neutral | [ClinVar] SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
| 5 | RNF212 | AA | Neutral | [ClinVar] RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1 |
| 5 | IL1B | AG | Neutral | [ClinVar] Antisynthetase syndrome |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | AC | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | CYP11B2 | AG | Neutral | [ClinVar] Aldosterone to renin ratio, increased |
| 5 | LIPC | CT | Neutral | [ClinVar] High density lipoprotein cholesterol level quantitative trait locus 12 |
| 5 | TNF | AC | Neutral | [ClinVar] Alzheimer disease, protection against |
| 5 | FAM13A | TT | Neutral | [ClinVar] Chronic obstructive pulmonary disease |
| 5 | MGST1 | AA | Neutral | [ClinVar] Pulmonary disease, chronic obstructive, susceptibility to |
| 5 | IL1RL1 | AA | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | CYP2C8 | CT | Neutral | [ClinVar] Pulmonary disease, chronic obstructive, susceptibility to |
| 5 | SAMD4A | CT | Neutral | [ClinVar] Lip and oral cavity carcinoma |
| 5 | APC | CT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | GT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | PADI2 | CT | Neutral | [ClinVar] Rheumatoid arthritis;C5441745:Abnormal pulmonary interstitial morphology |
| 5 | AHSG | GT | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | AHSG | AG | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | NOS3 | CT | Neutral | [ClinVar] Metabolic syndrome, susceptibility to |
| 5 | NOD2 | AG | Neutral | [ClinVar] Leprosy, susceptibility to, 1 |
| 5 | HAO1 | AG | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | PADI4 | CT | Neutral | [ClinVar] Rheumatoid arthritis |
| 5 | IL18R1 | AC | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | IL1RL2 | AC | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | DIO2 | CT | Neutral | [ClinVar] Levothyroxine response |
| 5 | DIO2 | AG | Neutral | [ClinVar] Levothyroxine response |
| 5 | HAO1 | AG | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | RAB2A | GG | Neutral | [ClinVar] Vascular endothelial growth factor (VEGF) inhibitor response |
| 5 | SDC3 | AG | Neutral | [ClinVar] Obesity, association with |
| 5 | P2RY11 | AG | Neutral | [ClinVar +1] Cataplexy and narcolepsy |
| 5 | ANKRD17 | CT | Neutral | [ClinVar] Lip and oral cavity carcinoma |
| 5 | BMP2 | AG | Neutral | [ClinVar] Lung cancer |
| 5 | LDHA | TT | Neutral | [ClinVar] decreased blood alpha-hydroxyisovalerate levels |
| 5 | HAO1 | AG | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | APC | CT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | CT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | AA | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | CC | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | ABO | CC | Neutral | [ClinVar] ABO blood group system |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | CG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | CT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | AT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | OR2J3 | AG | Neutral | [ClinVar] C3HEX, ability to smell |
| 5 | CD44 | AG | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | CD44 | AT | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | CD44 | CG | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | APC | GG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | HLA-G | GATTTGTTCATGCCT/GATTTGTTCATGCCT | Neutral | [ClinVar] Post-COVID-19 disorder |
| 5 | AGXT2 | CT | Neutral | [ClinVar] Beta-aminoisobutyric acid, urinary excretion of |
| 5 | OR2J3 | AG | Neutral | [ClinVar] C3HEX, ability to smell |
| 5 | CYP2C8 | CT | Neutral | [ClinVar] Pulmonary disease, chronic obstructive, susceptibility to |
| 5 | IL18R1 | CT | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | CD44 | AG | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | RNF212 | GG | Neutral | [ClinVar] RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1 |
| 5 | APC | AA | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | EIF3G | AG | Neutral | [ClinVar] Cataplexy and narcolepsy |
| 5 | CASP8 | TAGTAAG/T | Neutral | [ClinVar] Lung cancer, protection against |
| 5 | - | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | ARNT2 | CT | Neutral | [ClinVar] Pulmonary disease, chronic obstructive, susceptibility to |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | CT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | - | AG | Neutral | [ClinVar] Chronic osteomyelitis |
| 5 | APC | CT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | CXCL8 | AT | Neutral | [ClinVar] Cholangiocarcinoma |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | ABCC1 | GT | Neutral | [ClinVar] Familial cancer of breast |
| 5 | SLC9A4 | GT | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | - | AT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | - | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | XRCC1 | CGTGT/C | Neutral | [ClinVar] Laryngeal squamous cell carcinoma |
| 5 | TNFSF15 | CT | Neutral | [ClinVar] Leprosy, susceptibility to, 1 |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | CC | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | GT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | CT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | CC | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | AA | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | FKBP5 | CT | Neutral | [ClinVar] Susceptibility to severe depressive disorder |
| 5 | FKBP5 | AG | Neutral | [ClinVar] Susceptibility to severe depressive disorder |
| 5 | CREB5 | GT | Neutral | [ClinVar] Vascular endothelial growth factor (VEGF) inhibitor response |
| 5 | CCDC3 | CT | Neutral | [ClinVar] Lip and oral cavity carcinoma |
| 5 | IL18R1 | AC | Neutral | [ClinVar] Behcet disease |
| 5 | SLC9A4 | CT | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | FUT2 | GG | Neutral | [ClinVar] Familial Otitis Media |
| 5 | IL1RL1 | CT | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | ABO | GG | Neutral | [ClinVar] ABO blood group system |
| 5 | APC | CT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | ABO | GG | Neutral | [ClinVar] ABO blood group system |
| 5 | APC | GT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | CG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | ASIP | GG | Neutral | [ClinVar] SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR |
| 5 | HAO1 | CT | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | PRSS2 | AG | Neutral | [ClinVar] Pancreatitis, chronic, protection against |
| 5 | KITLG | CT | Neutral | [ClinVar] SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN |
| 5 | SLC2A9 | CT | Neutral | [ClinVar] Uric acid concentration, serum, quantitative trait locus 2 |
| 5 | PINK1 | AG | Neutral | [ClinVar] Leprosy, susceptibility to, 1 |
| 5 | CYP4Z1 | AG | Neutral | [ClinVar] Pulmonary disease, chronic obstructive, susceptibility to |
| 5 | IL1RL1 | CT | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | FUT2 | TT | Neutral | [ClinVar] Familial Otitis Media |
| 5 | FKBP5 | AC | Neutral | [ClinVar] Susceptibility to severe depressive disorder |
| 5 | CD44 | AT | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | CD44 | AG | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | SPNS2 | GG | Neutral | [ClinVar] Vascular endothelial growth factor (VEGF) inhibitor response |
| 5 | SLC2A9 | AG | Neutral | [ClinVar] Uric acid concentration, serum, quantitative trait locus 2 |
| 5 | APC | AC | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | BGLAP | AG | Neutral | [ClinVar] Nephrolithiasis, calcium oxalate |
| 5 | - | AG | Neutral | [ClinVar] Chronic osteomyelitis |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | APC | AG | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | NOD2 | AG | Neutral | [ClinVar] Leprosy, susceptibility to, 1 |
| 5 | MGST3 | GT | Neutral | [ClinVar] Pulmonary disease, chronic obstructive, susceptibility to |
| 5 | APC | TT | Neutral | [ClinVar] Familial colorectal cancer |
| 5 | IL18RAP | CT | Neutral | [ClinVar] Ascending aortic dissection |
| 5 | - | AG | Neutral | [ClinVar] Chronic obstructive pulmonary disease |
| 5 | HERC2 | CC | Neutral | [ClinVar] SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES |
| 5 | MGST1 | GT | Neutral | [ClinVar] Pulmonary disease, chronic obstructive, susceptibility to |
| 5 | MGST3 | AA | Neutral | [ClinVar] Pulmonary disease, chronic obstructive, susceptibility to |
| 5 | FKBP5 | CG | Neutral | [ClinVar] Susceptibility to severe depressive disorder |
| 5 | CDKN2B-AS1 | CG | Neutral | [ClinVar] Three Vessel Coronary Disease |
| 5 | CNTN4 | CT | Neutral | [ClinVar] Lip and oral cavity carcinoma |
| 3 | TP53 | CC | Good | [SNPedia] SNPedia: Live 3 years longer. Chemotherapy is more effective. |
| 2 | ABCC11 | CT | Good | [SNPedia] SNPedia: Wet earwax. Slightly better body odour. |
| 2 | ADIPOQ | GT | Good | [SNPedia] SNPedia: Slightly lower risk of breast cancer |
| 2 | FOXO3 | GT | Good | [SNPedia] SNPedia: One copy of a longevity gene. Slightly increased lifespan. |
| 2 | TBX21 | CC | Neutral | [SNPedia] SNPedia: 2.1x risk for Aspirin Induced Asthma. But possibly lower risk of lupus and intractable Graves' disease. |
| 2 | APOB | AG | Bad | [SNPedia] SNPedia: increased risk in men for biliary conditions |
| 2 | ITGB3 | CT | Bad | [SNPedia] SNPedia: MI risk, aspirin resistance |
| 2 | HTR2A | CT | Good | [SNPedia] SNPedia: Normal risk of sexual dysfunction when taking SSRI Antidepressants. |