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
RS1057516696 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516697 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516698 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1057516700 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1057516701 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1057516702 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS1057516704 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516705 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1057516706 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516707 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1057516708 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516709 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516710 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516711 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516712 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1057516713 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516714 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057516715 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1057516716 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1057516717 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS1057516718 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1057516719 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1057516720 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1057516721 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1057516722 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1057516723 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1057516725 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1057516727 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516728 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1057516729 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1057516730 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1057516731 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS1057516732 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1057516733 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1057516734 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1057516735 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1057516736 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1057516737 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS1057516738 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1057516739 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1057516740 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1057516741 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516742 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1057516744 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS1057516745 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1057516746 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS1057516747 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1057516749 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1057516750 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1057516751 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516752 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1057516753 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1057516754 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1057516755 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057516756 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516757 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1057516758 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1057516759 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS1057516760 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1057516761 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516762 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516763 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516764 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516765 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1057516766 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS1057516767 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Inborn genetic diseases
RS1057516768 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516769 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1057516770 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1057516771 CTNS Health Risk Pathogenic/Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS1057516772 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057516773 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516774 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1057516775 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516776 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1057516777 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1057516778 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1057516779 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057516780 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1057516781 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS1057516782 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1057516783 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1057516784 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1057516785 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1057516786 BCS1L Health Risk Likely pathogenic GRACILE syndrome, GRACILE syndrome
RS1057516787 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057516788 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1057516789 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057516790 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS1057516791 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1057516792 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1057516793 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516795 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1057516796 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS1057516797 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1057516798 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS1057516799 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS1057516800 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1057516801 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1057516802 BCS1L Health Risk Pathogenic GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
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