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
RS1057516910 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Salla disease
RS1057516911 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1057516913 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516914 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1057516915 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1057516917 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1057516918 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1057516919 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1057516920 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1057516921 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1057516922 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516923 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516924 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516925 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1057516926 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516927 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1057516928 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516929 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1057516930 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057516931 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1057516932 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057516933 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1057516934 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1057516935 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516936 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1057516938 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1057516939 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1057516940 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1057516942 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1057516943 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1057516944 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516945 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Abnormality of the nervous system
RS1057516946 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS1057516947 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516948 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516949 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1057516950 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1057516951 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1057516952 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516953 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1057516954 BCS1L Health Risk Likely pathogenic GRACILE syndrome, GRACILE syndrome
RS1057516955 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1057516956 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS1057516957 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057516958 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1057516959 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057516960 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1057516961 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS1057516962 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057516963 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS1057516964 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1057516965 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS1057516966 FKTN Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1057516967 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1057516968 DPYD Health Risk Pathogenic/Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, DPYD-related disorder
RS1057516969 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS1057516970 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1057516971 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516972 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1057516973 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1057516974 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1057516975 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516976 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1057516977 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1057516979 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057516980 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516981 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516982 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516983 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1057516984 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516985 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1057516986 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1057516987 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057516988 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1057516989 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS1057516990 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1057516991 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1057516992 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1057516994 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516995 ASPA Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Canavan Disease
RS1057516996 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1057516997 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516998 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1057517000 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1057517001 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS1057517002 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057517003 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1057517004 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1057517005 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1057517007 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1057517008 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1057517009 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1057517011 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1057517012 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057517014 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057517017 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057517018 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057517020 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057517021 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1057517022 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
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