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
RS748968538 SLC35A3 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS748968589 ATP6V0A4 Health Risk Pathogenic —
RS748969699 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS748969707 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS748970719 SLC34A3 Health Risk Conflicting classifications of pathogenicity SLC34A3-related disorder, SLC34A3-related disorder
RS748970759 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D
RS748972176 HESX1 Health Risk Conflicting classifications of pathogenicity Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
RS748972179 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS748972748 TULP1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 15, Retinitis pigmentosa 14
RS748974113 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS748974194 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS748974541 UNG Health Risk Likely pathogenic Hyper-IgM syndrome type 5, Colorectal cancer
RS748974608 PROM1 Health Risk Pathogenic —
RS748977074 ATP6AP2 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases
RS748977292 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS748977698 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS748978134 SPINK5 Health Risk Likely pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS748978993 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS748979061 GRM6 Health Risk Pathogenic —
RS748980218 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS748980441 TPP2 Health Risk Conflicting classifications of pathogenicity Evans syndrome, immunodeficiency
RS748980961 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-related disorder
RS748981591 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS748981899 GNAT2 Health Risk Pathogenic Achromatopsia 4, Achromatopsia 4
RS748982784 ALG11 Health Risk Pathogenic ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS748983205 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748983257 SLC2A1 Health Risk Conflicting classifications of pathogenicity Encephalopathy due to GLUT1 deficiency, Dystonia 9
RS748983904 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS748984540 STUB1 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS748984657 RP1L1 Health Risk Pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS748985164 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS748985200 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Cataract 18
RS748986619 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS748986705 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS748987495 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS748988275 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS748989557 FLVCR1 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS748990736 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS748991295 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS748991956 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS748993057 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS748993388 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS748993808 STAG1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 47
RS748994888 TRMT10A Health Risk Pathogenic/Likely pathogenic See cases, Microcephaly
RS748997539 NBAS Health Risk Pathogenic —
RS748997622 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS748997644 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS748998633 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS748999002 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS748999076 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS748999850 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS749000334 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS749000689 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS749000879 DPM3 Health Risk Pathogenic DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
RS749001381 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS749001511 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS749001958 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS749002214 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS749003041 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS749003514 COL11A1 Health Risk Conflicting classifications of pathogenicity Marshall syndrome, Stickler syndrome type 2
RS749004212 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS749004984 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS749005373 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS749005420 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS74900634 POR Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS749007253 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS749007293 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS749008572 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS749008952 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS749009273 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS749009747 COL18A1 Health Risk Pathogenic Knobloch syndrome, Knobloch syndrome 1
RS749011772 KIZ Health Risk Pathogenic —
RS749012012 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS749012133 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinal dystrophy
RS749012180 GPD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749012588 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS749012756 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS749012928 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS749012938 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS749013429 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS749013749 GUCA1A Health Risk Pathogenic Cone dystrophy 3, Retinal dystrophy
RS749013790 SI Health Risk Likely pathogenic —
RS749013931 ACTA2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS749014065 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS749014188 GBA1 Health Risk Likely pathogenic Gaucher disease, Gaucher disease type I
RS749015246 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS749017489 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS749017984 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS749018114 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS749018115 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS749018170 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS749018985 TCTN3 Health Risk Pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS749019037 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7
RS749019340 FBXO7 Health Risk Pathogenic/Likely pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS749019982 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749020375 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS749020872 SLC4A1 Health Risk Conflicting classifications of pathogenicity 11 conditions, 11 conditions
RS749022707 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS749024135 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS749025131 OBSCN Health Risk Pathogenic Hearing loss, autosomal recessive 120
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