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
RS2538991883 ANO3 Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS2538992151 NFIB Health Risk Likely pathogenic See cases, See cases
RS2538992242 NFIB Health Risk Likely pathogenic —
RS2538992538 NFIB Health Risk Likely pathogenic Macrocephaly, acquired
RS2538994311 NFIB Health Risk Pathogenic Macrocephaly, acquired
RS2538994374 HPS1 Health Risk Pathogenic —
RS2538995388 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538995420 HPS1 Health Risk Likely pathogenic —
RS2538996505 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538998903 DNM1 Health Risk Pathogenic —
RS2539004951 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS2539009952 BMP1 Health Risk Likely pathogenic —
RS2539010215 BMP1 Health Risk Likely pathogenic —
RS2539011957 CDH23 Health Risk Pathogenic —
RS2539014270 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2539014505 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2539016251 BMP1 Health Risk Pathogenic —
RS2539017364 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS2539017529 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2539021872 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2539021943 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2539022148 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539022534 SETX Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS2539023307 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS2539023990 CDK5RAP2 Health Risk Likely pathogenic Microcephaly 3, primary
RS2539025331 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539025368 BMP1 Health Risk Pathogenic —
RS2539026220 PCDH15 Health Risk Pathogenic —
RS2539026307 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539026370 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539026716 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539026741 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539027066 PCDH15 Health Risk Pathogenic —
RS2539028402 PCDH15 Health Risk Pathogenic —
RS2539028575 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539029705 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539030948 GANAB Health Risk Likely pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS2539031078 NFIB Health Risk Pathogenic Macrocephaly, acquired
RS2539032716 BMP1 Health Risk Likely pathogenic —
RS2539034080 CDK5RAP2 Health Risk Likely pathogenic Microcephaly 3, primary
RS2539036825 BMP1 Health Risk Pathogenic —
RS2539040580 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2539041175 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2539041407 OPTN Health Risk Likely pathogenic —
RS2539041527 OPTN Health Risk Pathogenic Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12
RS2539041649 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539041764 OPTN Health Risk Likely pathogenic OPTN-related disorder, OPTN-related disorder
RS2539042877 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2539052796 GANAB Health Risk Likely pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS2539054352 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS2539056279 OPTN Health Risk Pathogenic Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12
RS2539056493 OPTN Health Risk Likely pathogenic —
RS2539056673 ENG Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS2539056864 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539059011 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539059099 ENG Health Risk Likely pathogenic ENG-related disorder, ENG-related disorder
RS2539059208 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539059240 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2539059288 ENG Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia
RS2539059621 ENG Health Risk Pathogenic ENG-related disorder, Hereditary hemorrhagic telangiectasia
RS2539059661 ENG Health Risk Likely pathogenic ENG-related disorder, ENG-related disorder
RS2539059682 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539059724 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539059739 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539059836 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539059906 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539059969 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2539059977 ENG Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539060300 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539060610 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2539060865 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2539060956 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS2539061007 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2539061045 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2539061224 ENG Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539062305 OPTN Health Risk Likely pathogenic Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12
RS2539063234 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS2539063240 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS2539063296 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2539063954 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2539064198 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2539064206 ENG Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS2539064228 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539064322 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539064327 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2539064352 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS2539064376 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS2539064456 ENG Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539064493 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2539070801 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539070821 ENG Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539070826 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2539070874 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539070883 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539070896 OPTN Health Risk Pathogenic Primary open angle glaucoma, Glaucoma 1
RS2539070936 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539070978 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS2539070987 ENG Health Risk Pathogenic —
RS2539071073 ENG Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2539071090 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
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