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
RS1401379546 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1401381423 CLN6 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS140138979 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS140139362 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, CIITA-related disorder
RS140140022 KIF21A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140140023 LINS1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 27
RS140140182 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS140140417 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS140141126 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS140141633 SPTB Health Risk Conflicting classifications of pathogenicity Elliptocytosis 3, Elliptocytosis 3
RS140143192 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS140144159 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS140144597 HPD Health Risk Conflicting classifications of pathogenicity Tyrosinemia type III, Hawkinsinuria
RS140144799 KIF5A Health Risk Likely pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS1401450508 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS140146478 LAMB1 Health Risk Conflicting classifications of pathogenicity LAMB1-related disorder, Multiple sclerosis
RS140147684 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS140148105 MYPN Health Risk Conflicting classifications of pathogenicity Familial hypertrophic cardiomyopathy 22, Dilated cardiomyopathy 1KK
RS140148170 LHCGR Health Risk Conflicting classifications of pathogenicity Leydig cell agenesis, Gonadotropin-independent familial sexual precocity
RS140148322 FHL2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiomyopathy
RS140148380 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1401485925 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS140148806 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 5
RS140148914 MCOLN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucolipidosis type IV
RS1401491606 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS1401497994 CLN3 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Neuronal ceroid lipofuscinosis
RS1401504319 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS140150501 ANKH Health Risk Conflicting classifications of pathogenicity Craniometaphyseal dysplasia, autosomal dominant
RS1401507282 PAX2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS140151060 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS1401510742 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS140151286 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, GM3 synthase deficiency
RS140151379 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS140152387 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS140152934 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Clear cell carcinoma of kidney
RS1401531865 GDF6 Health Risk Pathogenic Leber congenital amaurosis 17, Leber congenital amaurosis 17
RS140154015 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases
RS1401541483 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1401551498 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS140155568 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS140156029 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1401565860 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS140157113 UPB1 Health Risk Pathogenic Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS140157207 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TRAPPC9-related disorder
RS140157299 TMEM38B Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, TMEM38B-related disorder
RS1401574168 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS140157424 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS140158304 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS140158416 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140158476 SLC9A6 Health Risk Conflicting classifications of pathogenicity Christianson syndrome, Christianson syndrome
RS140159323 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Cataract 18
RS140159343 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS140159548 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1401599439 POLR3GL Health Risk Pathogenic Short stature, oligodontia
RS140160519 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1401608038 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS1401619267 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS140162658 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1401639769 EIF2B5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140164220 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS1401643874 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS140165185 PREPL Health Risk Conflicting classifications of pathogenicity Myasthenic syndrome, congenital
RS1401654517 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1401656265 PABPN1 Health Risk Conflicting classifications of pathogenicity Oculopharyngeal muscular dystrophy 1, Oculopharyngeal muscular dystrophy 1
RS140167187 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS140167865 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Inborn genetic diseases
RS1401681748 PTPN23 Health Risk Pathogenic Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS1401684116 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS140169311 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, ETFA-related disorder
RS1401695686 SDHD Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Cowden syndrome 3
RS1401696592 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1401703940 F2 Health Risk Likely pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS140170877 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS140170914 EYA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 10, Cardiovascular phenotype
RS1401711549 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS1401713017 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1401715737 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS1401716074 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1401721711 OPTN Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 10, Primary open angle glaucoma
RS140172728 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS140172891 SMO Health Risk Conflicting classifications of pathogenicity Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
RS1401743626 HNF1A Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young type 3, Type 1 diabetes mellitus 20
RS140174653 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS140175164 GYG1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS140175796 PAH Health Risk Likely pathogenic Phenylketonuria, See cases
RS1401758241 RBL2 Health Risk Pathogenic Brunet-Wagner neurodevelopmental syndrome, Brunet-Wagner neurodevelopmental syndrome
RS1401759980 ATP1A1 Health Risk Likely pathogenic Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability
RS140176031 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS140176235 DCLRE1C Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS140177257 GPC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1401779172 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1401779653 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS140178341 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS140178375 THPO Health Risk Conflicting classifications of pathogenicity THPO-related disorder, THPO-related disorder
RS140178576 LAMA2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, limb-girdle
RS140179068 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS140179844 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1401798992 SLTM Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS140180067 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS140180549 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
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