SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1057517023 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057517024 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1057517025 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057517026 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1057517027 PROP1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS1057517028 SLC17A5 Health Risk Pathogenic Salla disease, Intermediate severe Salla disease
RS1057517029 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057517030 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1057517031 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1057517032 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1057517033 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057517034 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057517035 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1057517036 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1057517039 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057517040 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1057517041 PROP1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS1057517042 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS1057517043 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1057517044 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1057517045 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS1057517046 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1057517047 PKHD1 Health Risk Pathogenic Urogenital tract malformation, Polycystic kidney disease 4
RS1057517048 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1057517049 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1057517050 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1057517051 SGCB Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1057517052 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1057517053 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1057517055 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057517056 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1057517057 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057517058 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1057517059 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS1057517060 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057517062 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1057517063 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057517064 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1057517065 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057517066 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057517067 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1057517068 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS1057517069 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1057517070 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1057517071 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1057517072 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1057517073 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1057517075 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057517076 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057517077 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1057517078 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057517079 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057517081 HGD Health Risk Pathogenic Alkaptonuria, HGD-related disorder
RS1057517082 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057517083 CBS Health Risk Pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1057517084 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1057517085 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057517086 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1057517087 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1057517088 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1057517089 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1057517090 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1057517091 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1057517094 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS1057517095 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057517096 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS1057517097 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1057517098 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1057517099 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057517100 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1057517101 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1057517102 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057517103 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1057517104 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057517105 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1057517106 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1057517107 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1057517108 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1057517109 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1057517110 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1057517111 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1057517112 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1057517113 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1057517114 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1057517115 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1057517116 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS1057517117 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1057517118 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1057517119 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Salla disease
RS1057517120 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057517123 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057517124 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS1057517125 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1057517126 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057517129 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1057517130 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057517131 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1057517132 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1057517133 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1057517134 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
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