SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1800366 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1800367831 ASAH1 Health Risk Conflicting classifications of pathogenicity Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Farber lipogranulomatosis
RS1800369 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1800371 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1800379 VWF Health Risk Pathogenic —
RS1800386 VWF Health Risk Conflicting classifications of pathogenicity; risk factor Hereditary von Willebrand disease, Inborn genetic diseases
RS1800386420 TRMU Health Risk Pathogenic/Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS1800408 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Inborn genetic diseases
RS1800409 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS1800418 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS1800421 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism, Oculocutaneous albinism
RS1800427 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1800450 MBL2 Health Risk Conflicting classifications of pathogenicity Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
RS1800456 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Ovarian serous cystadenocarcinoma
RS1800463 SERPINA3 Health Risk Pathogenic ANTICHYMOTRYPSIN BOCHUM 1, ANTICHYMOTRYPSIN BOCHUM 1
RS1800466 MAOA Health Risk Conflicting classifications of pathogenicity Brunner syndrome, Inborn genetic diseases
RS1800467 KCNJ11 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS1800480 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1800492946 RUNX2 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS1800496 DRD2 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, DRD2-associated Dystonia
RS1800500908 BRAF Health Risk Likely pathogenic Cardiofaciocutaneous syndrome 1, Cardiofaciocutaneous syndrome 1
RS1800507644 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, 6 conditions
RS1800519 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS1800540581 EYA4 Health Risk Pathogenic —
RS1800546 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, See cases
RS1800548 ABCA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Stargardt disease
RS1800549 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS1800552 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Inborn genetic diseases
RS1800553 ABCA4 Health Risk Pathogenic MACULAR DEGENERATION, AGE-RELATED
RS1800557 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS1800558 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1800562 HFE Health Risk Conflicting classifications of pathogenicity; other; risk factor Hemochromatosis type 1, Hereditary cancer-predisposing syndrome
RS1800565 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1800575 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Type 2 diabetes mellitus
RS1800576 THBD Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome
RS1800578 THBD Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome
RS1800582 GYPA Health Risk Pathogenic BLOOD GROUP ERIK, BLOOD GROUP ERIK
RS1800586 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1800588 LIPC Health Risk association High density lipoprotein cholesterol level quantitative trait locus 12, High density lipoprotein cholesterol level quantitative trait locus 12
RS1800704 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1800727 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1800728 ABCA4 Health Risk Pathogenic Cone-rod dystrophy 3, Retinal dystrophy
RS1800728912 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1800730 HFE Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 1, Hereditary hemochromatosis
RS1800747 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1800750 TNF Health Risk risk factor Malaria, cerebral
RS1800751 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS1800757 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1800795 IL6 Health Risk other; risk factor Crohn disease-associated growth failure, susceptibility to
RS1800807147 CNTNAP2 Health Risk Pathogenic —
RS1800843840 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1800848418 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1800848531 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1800853 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, permanent neonatal 3
RS1800857447 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1800859 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1800890010 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1800896 IL10 Health Risk Pathogenic Leprosy, susceptibility to
RS1800897309 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1800904262 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1800908907 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS1800911222 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS1800917478 STAG3 Health Risk Likely pathogenic Premature ovarian failure 8, Premature ovarian failure 8
RS1800925 IL13 Health Risk risk factor Inherited susceptibility to asthma, Inherited susceptibility to asthma
RS1800925762 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS1800926856 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1800928352 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS1800928868 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1800930 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Acrodermatitis continua suppurativa of Hallopeau
RS1800931751 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS1800933874 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1800936242 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1800937 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1800937691 KCNH2 Health Risk Pathogenic/Likely pathogenic Cardiac arrhythmia, Cardiovascular phenotype
RS1800940404 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Cardiac arrhythmia
RS1800946921 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1800949012 KCNH2 Health Risk Pathogenic —
RS1800949572 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
RS1800955 - Health Risk Uncertain risk allele methamphetamine use disorder, methamphetamine use disorder
RS1800955789 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1800956 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1800958758 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome 2
RS1800970116 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1800975855 KCNH2 Health Risk Pathogenic/Likely pathogenic Cardiac arrhythmia, Cardiovascular phenotype
RS1800995 BEST1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS1801002 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment
RS1801002279 KCNH2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS1801005389 KCNH2 Health Risk Likely pathogenic Long QT syndrome 2, Long QT syndrome 2
RS1801007403 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801008727 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801030116 BRAF Health Risk Pathogenic Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS1801032151 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801084514 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome 2
RS1801085857 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome 2
RS1801086 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1801088980 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801134712 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801136288 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801136696 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome 2
RS1801137678 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
« Prev 1 ... 1243 1244 1245 1246 1247 1248 1249 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →