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
RS1391287100 USP9X Health Risk Likely pathogenic —
RS139128953 GJA1 Health Risk Conflicting classifications of pathogenicity Oculodentodigital dysplasia, Syndactyly type 3
RS139129327 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1391295040 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS139129900 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Inborn genetic diseases
RS139130590 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS139130605 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS139131485 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Multiple sclerosis
RS1391324814 POLE Health Risk Pathogenic —
RS139132568 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 21
RS1391326211 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS139133094 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS1391332906 TMPRSS3 Health Risk Likely pathogenic —
RS1391335025 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS139134468 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS139134591 COLGALT1 Health Risk Conflicting classifications of pathogenicity —
RS139134727 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS139135254 ABHD12 Health Risk Conflicting classifications of pathogenicity ABHD12-related disorder, ABHD12-related disorder
RS1391355304 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS139135606 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1391365292 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1391369844 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1391372707 NEB Health Risk Pathogenic —
RS1391374865 KIF12 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS139137932 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS139138043 LTBP2 Health Risk Conflicting classifications of pathogenicity Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
RS139139263 DMXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139139296 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS139139350 GCK Health Risk Conflicting classifications of pathogenicity Transient Neonatal Diabetes, Recessive
RS139139859 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS1391401672 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS139141291 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS139141519 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, VCAN-related disorder
RS1391416524 IDH3A Health Risk Pathogenic —
RS1391418639 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS139142141 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, Nephronophthisis 14
RS139142520 SLC26A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypersulfaturia
RS1391425287 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS139142572 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis
RS139142865 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1391429681 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1391443496 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS139145143 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS139145525 GALNT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139145929 CPA6 Health Risk Conflicting classifications of pathogenicity Epilepsy, Febrile seizures
RS139146037 FGA Health Risk Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
RS139146229 LCAT Health Risk Conflicting classifications of pathogenicity LCAT deficiency, Cardiovascular phenotype
RS139146525 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS139147068 POC1A Health Risk Conflicting classifications of pathogenicity POC1A-related disorder, POC1A-related disorder
RS139147487 EGR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1391475038 AP3B2 Health Risk Likely pathogenic —
RS139147641 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1391484758 PEX14 Health Risk Likely pathogenic Peroxisome biogenesis disorder, complementation group K
RS139148709 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS139149152 HSD17B3 Health Risk Conflicting classifications of pathogenicity Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS139149160 SLC25A13 Health Risk Conflicting classifications of pathogenicity Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia type II
RS1391492794 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS139152685 HSD3B7 Health Risk Conflicting classifications of pathogenicity —
RS1391527038 IMPDH1 Health Risk Pathogenic —
RS1391527793 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS139153235 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS139153630 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1391540245 CNTNAP2 Health Risk Pathogenic/Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS1391542283 SMPD4 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS139154852 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS139154868 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS139154882 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1391553153 SLC4A11 Health Risk Pathogenic —
RS139155515 UNC45A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139155910 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Inborn genetic diseases
RS139156019 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS1391578014 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS139157869 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS139158008 CTNNB1 Health Risk Conflicting classifications of pathogenicity —
RS139158022 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS139158852 CLCN1 Health Risk Likely pathogenic Batten-Turner congenital myopathy, Batten-Turner congenital myopathy
RS139158921 TNNI3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS139159081 TPM1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS139159095 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS139159258 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related disorder
RS139159346 TONSL Health Risk Likely pathogenic —
RS139159464 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS1391596181 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1391598284 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1391600900 SETBP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 29
RS139160837 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS139160898 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS139161034 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, DUOX2-related disorder
RS1391614221 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS139161525 HPS6 Health Risk Conflicting classifications of pathogenicity —
RS139161723 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1391622163 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1391624796 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1391625316 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Inborn genetic diseases
RS139163400 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS139163410 COL2A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, COL2A1-related disorder
RS139163545 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS139163788 MCM2 Health Risk Conflicting classifications of pathogenicity —
RS139163900 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS1391644554 LNPK Health Risk Pathogenic Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
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