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
RS2539125316 SETX Health Risk Likely pathogenic —
RS2539126206 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2539126370 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2539126528 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS2539131119 FOLR1 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS2539131729 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2539132141 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539132280 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539136286 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539140886 SETX Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 4, Amyotrophic lateral sclerosis type 4
RS2539140890 CACNA1B Health Risk Likely pathogenic —
RS2539142428 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2539142669 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2539143018 TSC1 Health Risk Pathogenic —
RS2539143887 TSC1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Isolated focal cortical dysplasia type II
RS2539144261 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2539144290 BSCL2 Health Risk Likely pathogenic Severe neurodegenerative syndrome with lipodystrophy, Severe neurodegenerative syndrome with lipodystrophy
RS2539145187 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2539145269 BSCL2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2539145885 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2539147032 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2539148178 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS2539149383 CACNA1B Health Risk Pathogenic —
RS2539154728 BSCL2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2539155047 BSCL2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2539165971 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539166522 PCDH15 Health Risk Pathogenic —
RS2539169278 PCDH15 Health Risk Pathogenic —
RS2539169490 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539174013 BSCL2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2539176777 GOLGA2 Health Risk Likely pathogenic —
RS2539179036 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2539180244 SETX Health Risk Likely pathogenic SETX-related disorder, SETX-related disorder
RS2539181714 BSCL2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2539187451 FXN Health Risk Pathogenic —
RS2539201047 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539202119 PCDH15 Health Risk Pathogenic —
RS2539203973 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539204690 GOLGA2 Health Risk Pathogenic Developmental delay with hypotonia, myopathy
RS2539204706 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539207660 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539208842 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539210287 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539210434 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539210698 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539210763 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS2539210878 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539213235 GOLGA2 Health Risk Pathogenic Developmental delay with hypotonia, myopathy
RS2539216620 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539216631 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539216665 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539217018 FXN Health Risk Likely pathogenic Friedreich ataxia 1, Friedreich ataxia 1
RS2539217163 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539220743 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2539220754 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539220764 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539221052 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539221237 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539221313 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539221431 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539221631 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539221742 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539221960 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539226434 INPPL1 Health Risk Likely pathogenic —
RS2539227294 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539227507 DHCR7 Health Risk Conflicting classifications of pathogenicity —
RS2539227728 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539227858 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539227981 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539228241 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539228948 DHCR7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2539231409 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539231473 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539232054 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539234389 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539236149 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539236641 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539236724 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539236798 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539236911 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539237238 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539237303 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539237550 FREM1 Health Risk Likely pathogenic —
RS2539238128 SETX Health Risk Pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS2539239056 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2539247073 INPPL1 Health Risk Pathogenic —
RS2539251135 INPPL1 Health Risk Pathogenic Opsismodysplasia, Opsismodysplasia
RS2539251246 CAPN1 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS2539254386 GOLGA2 Health Risk Pathogenic —
RS2539264453 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS2539265508 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2539266663 CAPN1 Health Risk Pathogenic —
RS2539266695 CAPN1 Health Risk Pathogenic —
RS2539273554 CACNA1B Health Risk Pathogenic —
RS2539288898 TUB Health Risk Pathogenic —
RS2539296291 TUB Health Risk Likely pathogenic —
RS2539301850 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2539306245 MARK2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2539306253 MARK2 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder, Intellectual developmental disorder
RS2539306304 MARK2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
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