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
RS1868949196 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS186900352 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS1869006331 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS186906598 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS186908155 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1869082532 ERBB3 Health Risk Pathogenic Visceral neuropathy, familial
RS186908289 SRP72 Health Risk Conflicting classifications of pathogenicity Autosomal dominant aplasia and myelodysplasia, Familial cancer of breast
RS1869112857 SACS Health Risk Pathogenic —
RS186911476 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS1869136727 SACS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1869146335 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1869162207 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS186916831 KMT2E Health Risk Conflicting classifications of pathogenicity O'Donnell-Luria-Rodan syndrome, See cases
RS186924074 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS186926737 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS186927032 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS1869287041 MIPEP Health Risk Likely pathogenic Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS1869297835 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS186930123 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS1869312458 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1869312922 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS186932188 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS1869351345 GJB6 Health Risk Likely pathogenic Inborn genetic diseases, Hidrotic ectodermal dysplasia syndrome
RS186935606 GLDN Health Risk Conflicting classifications of pathogenicity GLDN-related disorder, GLDN-related disorder
RS186942072 SCN5A Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1E, Brugada syndrome 1
RS186942296 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS1869458758 TNFSF11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
RS186945948 FOXA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS186946111 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS186946267 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS1869502750 FREM2 Health Risk Pathogenic Fraser syndrome 2, Fraser syndrome 2
RS186950965 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS1869529188 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS186952950 FLNB Health Risk Conflicting classifications of pathogenicity —
RS186953545 KIT Health Risk Conflicting classifications of pathogenicity Piebaldism, Mastocytosis
RS1869539814 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1869545423 FREM2 Health Risk Pathogenic Fraser syndrome 2, Fraser syndrome 2
RS1869545659 TBX5 Health Risk Pathogenic/Likely pathogenic Aortic valve disease 2, Holt-Oram syndrome
RS186956439 FLNB Health Risk Conflicting classifications of pathogenicity Larsen syndrome, Larsen syndrome
RS1869579851 FREM2 Health Risk Pathogenic Fraser syndrome 2, Fraser syndrome 2
RS1869623039 FREM2 Health Risk Pathogenic Fraser syndrome 2, Fraser syndrome 2
RS186964660 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1869657867 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS1869683236 FREM2 Health Risk Pathogenic Fraser syndrome 2, Fraser syndrome 2
RS186970259 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS186972208 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS186972495 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS186972955 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, TMPRSS3-related disorder
RS1869751155 FREM2 Health Risk Pathogenic —
RS186975400 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS186979818 SLC12A3 Health Risk Conflicting classifications of pathogenicity —
RS1869871757 FREM2 Health Risk Pathogenic —
RS186987240 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS1869886793 FREM2 Health Risk Likely pathogenic Fraser syndrome 2, Fraser syndrome 2
RS186990940 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS186992412 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, Early-onset myopathy with fatal cardiomyopathy
RS186993093 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS1869939768 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS1869941124 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS186994154 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS186995249 SDHC Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS186997078 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS186998116 PIK3CD Health Risk Conflicting classifications of pathogenicity Immunodeficiency 14, Immunodeficiency 14
RS186999408 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS186999439 PIEZO2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS187003641 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Meckel syndrome
RS187004457 CYP4F22 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 5, Inborn genetic diseases
RS187005834 LDHA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS187007187 KNL1 Health Risk Conflicting classifications of pathogenicity —
RS1870100373 LEMD3 Health Risk Pathogenic Melorheostosis with osteopoikilosis, Inborn genetic diseases
RS187011732 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS187013643 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1870169267 LZTR1 Health Risk Likely pathogenic LZTR1-related disorder, LZTR1-related disorder
RS1870200055 MED13L Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1870202051 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Intellectual disability
RS1870211191 MED13L Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1870221353 MED13L Health Risk Pathogenic/Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS187022757 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS187023993 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1870251884 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS187027021 GPAA1 Health Risk Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
RS187027323 F13A1 Health Risk Conflicting classifications of pathogenicity Factor XIII, A subunit
RS187028696 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS187029293 HABP2 Health Risk Conflicting classifications of pathogenicity Factor VII Marburg I Variant Thrombophilia, Factor VII Marburg I Variant Thrombophilia
RS187033414 OTOF Health Risk Conflicting classifications of pathogenicity OTOF-related disorder, OTOF-related disorder
RS187036839 PIGN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1870392122 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS187043152 ZFPM2 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, 46
RS187043211 JAK1 Health Risk Conflicting classifications of pathogenicity JAK1-related disorder, JAK1-related disorder
RS187046823 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS187052141 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS1870531490 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS187055074 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS187055696 KLB Health Risk Conflicting classifications of pathogenicity —
RS187056670 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS187063864 B4GALT7 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome
RS1870699640 KITLG Health Risk Pathogenic Waardenburg syndrome, IIa 2F
RS187070265 PIGB Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 80
RS187075195 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1870762150 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
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