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
RS1603634749 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603635326 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603635331 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603635949 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603635950 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603635953 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603636515 DMD Health Risk Pathogenic —
RS1603636537 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1603636541 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603636710 DMD Health Risk Likely pathogenic Muscular dystrophy, Muscular dystrophy
RS1603639319 KCNMA1 Health Risk Likely pathogenic —
RS16052 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS16054 CACNA1A Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 6
RS1611115 DBH Health Risk association Dopamine beta-hydroxylase polymorphism, Dopamine beta-hydroxylase polymorphism
RS1616940 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease
RS1617629 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS1617640 EPO Health Risk risk factor Microvascular complications of diabetes, susceptibility to
RS1621962 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1638362423 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1638446514 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1638446662 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1638447240 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1638539773 B3GALT6 Health Risk Pathogenic Ehlers-Danlos syndrome, spondylodysplastic type
RS1638540007 B3GALT6 Health Risk Pathogenic Ehlers-Danlos syndrome, spondylodysplastic type
RS1638543931 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1638552845 B3GALT6 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia with joint laxity, type 1
RS1638559065 VWA1 Health Risk Likely pathogenic Neuromuscular disease, Neuromuscular disease
RS1638566519 B3GALT6 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, spondylodysplastic type
RS1638569809 SKI Health Risk Pathogenic Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS1638575128 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1638575413 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1638612983 VWA1 Health Risk Likely pathogenic —
RS1638619737 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1638620864 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1638632303 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1638698732 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1638698938 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1638699083 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1638701269 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1638734576 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1638739035 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1638739623 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1638740322 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1638772305 YARS1 Health Risk Likely pathogenic Neurologic, endocrine
RS1638957324 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1638959411 AK2 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1638960014 GALE Health Risk Likely pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS1638974195 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS1638975235 AK2 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1638981096 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS1638984968 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS1639038679 GALE Health Risk Pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS1639043704 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Neuropathy
RS1639045345 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2
RS1639045962 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2
RS1639047697 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2A2
RS1639048523 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Uterine corpus endometrial carcinoma
RS1639091509 AGMAT Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS1639171700 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
RS1639197832 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2
RS1639199557 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1639200820 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Global developmental delay
RS1639253483 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS1639294429 HSPG2 Health Risk Pathogenic —
RS1639299226 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1639390139 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy
RS1639458746 PUM1 Health Risk Pathogenic Spinocerebellar ataxia 47, Spinocerebellar ataxia 47
RS1639468949 FUCA1 Health Risk Likely pathogenic Fucosidosis, Abnormality of the nervous system
RS1639470403 FUCA1 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS1639559794 AK2 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1639603168 FUCA1;LOC126805661 Health Risk Likely pathogenic —
RS1639604269 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS1639662557 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1639662981 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1639663980 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1639666186 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1639669672 FUCA1 Health Risk Pathogenic/Likely pathogenic Fucosidosis, Fucosidosis
RS1639761448 TNFRSF9 Health Risk Pathogenic/Likely pathogenic TNFRSF9-related disorder, TNFRSF9-related disorder
RS1639840705 TNFRSF9 Health Risk Likely pathogenic —
RS1640042273 PUM1 Health Risk Likely pathogenic —
RS1640047087 PUM1 Health Risk Pathogenic —
RS1640237880 LCK Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS1640240555 GJA4 Health Risk Pathogenic Cutaneous venous malformation, Hepatic hemangioma
RS1640240931 LCK Health Risk Likely pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS1640406042 LCK Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS1640610158 AK2 Health Risk Pathogenic Reticular dysgenesis, Reticular dysgenesis
RS1640658015 PUM1 Health Risk Likely pathogenic Spinocerebellar ataxia 47, Spinocerebellar ataxia 47
RS1640875002 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1640875786 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1641167602 PEX14 Health Risk Likely pathogenic Peroxisome biogenesis disorder, complementation group K
RS1641316046 NPHP4 Health Risk Likely pathogenic Senior-Loken syndrome 4, Senior-Loken syndrome 4
RS1641387459 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RERE-related disorder
RS1641418583 RERE Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder with or without anomalies of the brain
RS1641438649 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS1641481122 RERE Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1641554114 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1641565884 RERE Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1641657166 VPS13D Health Risk Pathogenic —
RS1641698007 ATAD3A Health Risk Likely pathogenic Harel-Yoon syndrome, Harel-Yoon syndrome
RS1641702737 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
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