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
RS724160022 AIFM1 Health Risk Likely pathogenic Deafness, X-linked 5
RS724160024 AIFM1 Health Risk Likely pathogenic Deafness, X-linked 5
RS724160025 AIFM1 Health Risk Likely pathogenic Deafness, X-linked 5
RS724160026 AIFM1 Health Risk Likely pathogenic Deafness, X-linked 5
RS724160029 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5B
RS724160030 IGSF3 Health Risk Pathogenic Familial congenital nasolacrimal duct obstruction, Familial congenital nasolacrimal duct obstruction
RS7244681 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Inborn genetic diseases
RS72466451 HSPD1 Health Risk Pathogenic Hypomyelinating leukodystrophy 4, Leukodystrophy
RS72466462 CYP1B1 Health Risk Pathogenic Anterior segment dysgenesis 6, CYP1B1-related glaucoma with or without anterior segment dysgenesis
RS72466485 DCTN1 Health Risk Conflicting classifications of pathogenicity Perry syndrome, Neuronopathy
RS72466487 DCTN1 Health Risk Pathogenic Perry syndrome, Perry syndrome
RS72466489 DCTN1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS72466562 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS72466563 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS72466567 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS72466575 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS72466581 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS72466590 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 3B
RS72466595 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS72468626 DMD Health Risk Pathogenic/Likely pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS72468632 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS72468666 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS72468667 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS72468679 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS72468680 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS72468699 DMD Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Primary dilated cardiomyopathy
RS72468700 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS72470507 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS72470513 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS72470523 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS72474224 GJB2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment
RS72478580 PRLR Health Risk Conflicting classifications of pathogenicity Multiple fibroadenoma of the breast, PRLR-related disorder
RS72480429 TGFB1 Health Risk Conflicting classifications of pathogenicity —
RS72480437 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Glaucoma 3A
RS72480439 CYP1B1 Health Risk Pathogenic/Likely pathogenic Anterior segment dysgenesis 6, Congenital glaucoma
RS72480442 CYP1B1 Health Risk Likely pathogenic Congenital glaucoma, Anterior segment dysgenesis 6
RS72481807 CYP1B1 Health Risk Pathogenic Primary congenital glaucoma, Anterior segment dysgenesis 6
RS72481822 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS7249952 DOCK6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DOCK6-related disorder
RS7252610 TNNI3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
RS7252811 TCF3 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 8b, autosomal recessive
RS72541813 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS72541815 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS72542426 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia 2
RS72542427 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia 2
RS72542742 NR3C1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid resistance, Glucocorticoid resistance
RS72544141 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 4, Cardiac arrhythmia
RS72544145 SCN2B Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS72546315 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS72546338 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS72546668 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2/9, digenic
RS72546669 CAV3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS72546675 SCN4B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 10
RS72547285 CYBA Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS72547505 SLC10A2 Health Risk Conflicting classifications of pathogenicity SLC10A2-related disorder, Bile acid malabsorption
RS72547508 CYP11A1 Health Risk Likely pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS72547528 VKORC1 Health Risk Likely pathogenic Vitamin K-dependent clotting factors, combined deficiency of
RS72547529 VKORC1 Health Risk Conflicting classifications of pathogenicity Warfarin response, Vitamin K-dependent clotting factors
RS72547544 CHST6 Health Risk Pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS72547551 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS72547552 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS72547553 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS72547554 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS72547556 ALDH3A2 Health Risk Pathogenic/Likely pathogenic —
RS72547559 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS72547561 ALDH3A2 Health Risk Pathogenic/Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS72547562 ALDH3A2 Health Risk Pathogenic/Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS72547563 ALDH3A2 Health Risk Likely pathogenic —
RS72547564 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS72547566 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS72547567 ALDH3A2 Health Risk Pathogenic/Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS72547568 ALDH3A2 Health Risk Pathogenic/Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS72547569 ALDH3A2 Health Risk Pathogenic/Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS72547570 ALDH3A2 Health Risk Likely pathogenic —
RS72547571 ALDH3A2 Health Risk Pathogenic/Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS72547573 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS72547575 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS72547577 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS72547602 DPYD Health Risk Pathogenic Fluorouracil response, Fluorouracil response
RS72548741 GJA1 Health Risk Conflicting classifications of pathogenicity Syndactyly type 3, Hypoplastic left heart syndrome 1
RS72548742 GJA1 Health Risk Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1, Syndactyly type 3
RS72549297 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS72549304 DPYD Health Risk Pathogenic/Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS72549307 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Inborn genetic diseases
RS72549308 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS72549309 DPYD Health Risk Pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS72549310 DPYD Health Risk Pathogenic/Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS72549320 FMO3 Health Risk Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS72549322 FMO3 Health Risk Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS72549323 FMO3 Health Risk Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS72549324 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Trimethylaminuria
RS72549325 FMO3 Health Risk Likely pathogenic FMO3 activity, decreased
RS72549326 FMO3 Health Risk Pathogenic/Likely pathogenic Trimethylaminuria, FMO3-related disorder
RS72549330 FMO3 Health Risk Pathogenic Trimethylaminuria, Trimethylaminuria
RS72549331 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, FMO3-related disorder
RS72549332 FMO3 Health Risk Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS72549334 FMO3 Health Risk Pathogenic/Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS72549367 XDH Health Risk Pathogenic Xanthinuria type II, Hereditary xanthinuria type 1
RS72549369 XDH Health Risk Pathogenic/Likely pathogenic Hereditary xanthinuria type 1, Hereditary xanthinuria type 1
RS72549370 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
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