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
RS1057516804 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516805 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1057516806 LAMC2 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa
RS1057516807 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516808 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057516809 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516810 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1057516811 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1057516812 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1057516813 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1057516814 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1057516815 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1057516816 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057516817 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057516818 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057516819 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1057516820 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516821 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1057516822 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa simplex 1A
RS1057516823 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS1057516824 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS1057516825 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1057516826 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516827 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS1057516828 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516829 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516830 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1057516831 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS1057516832 PROP1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS1057516834 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516835 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516836 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1057516837 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057516838 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516839 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1057516840 VPS13B Health Risk Likely pathogenic Cohen syndrome, Ovarian cancer
RS1057516841 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516843 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Cardiac arrhythmia
RS1057516844 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1057516845 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516846 PROP1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS1057516847 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1057516848 ACADS Health Risk Pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1057516849 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1057516850 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057516851 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1057516852 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057516853 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516854 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1057516855 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1057516856 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516857 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516858 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
RS1057516859 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1057516861 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1057516862 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1057516863 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1057516864 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, MAN2B1-related disorder
RS1057516865 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1057516866 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1057516867 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1057516868 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516869 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057516870 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516871 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1057516872 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516873 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516874 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1057516875 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516876 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516878 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1057516879 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057516880 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1057516881 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1057516882 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS1057516883 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1057516884 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516885 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516886 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1057516887 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1057516888 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1057516889 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1057516891 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1057516892 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, PCDH15-related disorder
RS1057516893 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1057516894 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516895 CBS Health Risk Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1057516896 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS1057516897 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1057516898 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1057516899 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1057516900 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1057516901 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1057516902 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1057516903 POMGNT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1057516904 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Inborn genetic diseases
RS1057516905 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1057516906 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS1057516907 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1057516908 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
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