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
RS1283566463 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS1283572147 PDCL2 Health Risk Pathogenic Male infertility, Male infertility
RS1283575037 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS1283621955 ABCC8 Health Risk Pathogenic Familial hyperinsulinism, Familial hyperinsulinism
RS1283622290 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS1283637638 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1283638306 PTPRQ Health Risk Likely pathogenic PTPRQ-related disorder, PTPRQ-related disorder
RS1283644725 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1283652721 UGT1A1 Health Risk Conflicting classifications of pathogenicity —
RS1283655166 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS1283658402 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1283674079 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1283681963 SCN1A Health Risk Conflicting classifications of pathogenicity Seizure, Early-infantile DEE
RS1283798201 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1283810001 KCNH1 Health Risk Conflicting classifications of pathogenicity —
RS1283821643 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1283838287 TLK2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 57
RS1283839545 SCN9A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1283854712 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1283883810 TYMP Health Risk Pathogenic —
RS1283898827 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1283924469 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Marshall syndrome
RS1283939201 SOX18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
RS1283946778 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1283975197 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1283976400 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS1283989527 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1284038548 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1284057500 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1284058976 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Hypophosphatasia
RS1284060395 CYP11A1 Health Risk Likely pathogenic Congenital Adrenal Insufficiency, Congenital Adrenal Insufficiency
RS1284061457 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1284076232 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS1284083563 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1284087975 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1284183246 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1284183739 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS1284192515 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS1284200353 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1284200516 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1284215510 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS12842195 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1284258930 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS1284271131 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS1284277065 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1284303981 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, MYPN-related myopathy
RS1284309664 PCNT Health Risk Pathogenic —
RS1284315880 DUOX2 Health Risk Pathogenic —
RS1284328591 CACNA2D4 Health Risk Likely pathogenic —
RS1284335313 INTS1 Health Risk Pathogenic Neurodevelopmental disorder with cataracts, poor growth
RS1284336050 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1284336148 GRIN2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS1284351522 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1284362486 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1284389116 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1284390443 MMP14 Health Risk Pathogenic Winchester syndrome, Winchester syndrome
RS1284395468 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1284404989 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1284409960 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1284441535 POU4F3 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS1284446305 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1284458209 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1284461687 REST Health Risk Likely pathogenic Fibromatosis, gingival
RS1284462718 TG Health Risk Likely pathogenic —
RS1284488942 HNRNPC Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 74
RS1284500089 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1284508374 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1284529298 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1284559589 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS1284582102 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS1284592695 ATP6AP1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 47, Immunodeficiency 47
RS1284611172 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1284611659 GPIHBP1 Health Risk Likely pathogenic Hyperlipoproteinemia, type 1D
RS1284613041 IL12RB1 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1284633493 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1284649630 SLC24A1 Health Risk Pathogenic —
RS1284658608 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS1284659275 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1284681229 NDUFAF6 Health Risk Pathogenic —
RS1284695050 FBXO11 Health Risk Conflicting classifications of pathogenicity —
RS1284714866 MME Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 43, Spinocerebellar ataxia 43
RS1284736469 CEP57 Health Risk Likely pathogenic Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2
RS1284747916 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1284763505 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1284769637 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1284785470 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS1284790187 CAD Health Risk Pathogenic —
RS1284826852 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1284853215 CDH2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia, familial
RS1284857527 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS1284864421 TMPRSS15 Health Risk Conflicting classifications of pathogenicity Enterokinase deficiency, Enterokinase deficiency
RS1284876635 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS1284883505 WWOX Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS1284899632 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1284899820 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1284902357 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1284941471 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS1284942525 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS1284965933 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS1284984423 WDR62 Health Risk Pathogenic Squamous cell lung carcinoma, Squamous cell lung carcinoma
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