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
RS1239725461 SCAPER Health Risk Pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS1239736447 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS1239739885 MYO5B Health Risk Pathogenic —
RS1239786884 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS1239789338 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS1239794408 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1239806410 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1239824257 COL6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS1239852850 DUOX2 Health Risk Likely pathogenic —
RS1239854361 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1239857520 NEMF Health Risk Likely pathogenic —
RS1239874051 NTHL1 Health Risk Likely pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS1239876081 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1239878805 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1239898028 CYP19A1 Health Risk Pathogenic —
RS1239905273 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1239940017 KIAA0825 Health Risk Pathogenic Polydactyly, postaxial
RS1239942908 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1239951205 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS1239954306 MECR Health Risk Likely pathogenic —
RS1239955378 ETFA Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1239964151 PYCR2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS1239983557 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1239991919 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1239999768 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS1240024893 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1240035419 SI Health Risk Likely pathogenic —
RS1240035630 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1240061089 MYO18B Health Risk Pathogenic —
RS1240081512 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS1240083485 ETFDH Health Risk Conflicting classifications of pathogenicity ETFDH-related disorder, Glutaric acidemia type 2C
RS1240091785 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1240113334 ZNF408 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1240121049 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1240137844 F5 Health Risk Likely pathogenic Congenital factor V deficiency, Budd-Chiari syndrome
RS1240155321 SKIC2 Health Risk Pathogenic —
RS1240172375 DNAI2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS1240175008 FOXP2 Health Risk Likely pathogenic —
RS1240185024 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS1240187200 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1240187329 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1240207005 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS1240212722 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1240217406 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1240228560 CCM2 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Inborn genetic diseases
RS1240231224 STAG1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 47
RS1240232139 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1240259274 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS1240269505 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1240285695 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1240295587 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1240302428 FRAS1 Health Risk Pathogenic —
RS1240302846 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1240310622 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1240319744 IGHMBP2 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS1240326550 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1240328733 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1240334553 SOD1 Health Risk Conflicting classifications of pathogenicity Spastic tetraplegia and axial hypotonia, progressive
RS1240335250 TDP2 Health Risk Pathogenic Cerebellar ataxia, Cerebellar ataxia
RS1240340814 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS1240347743 COL4A3 Health Risk Likely pathogenic —
RS1240368715 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1240384484 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1240407435 IFT74 Health Risk Likely pathogenic —
RS1240409145 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1240422084 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS1240440566 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1240441464 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS1240460489 RAI1 Health Risk Conflicting classifications of pathogenicity See cases, Developmental disorder
RS1240465846 COL17A1 Health Risk Pathogenic —
RS1240488615 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS1240503246 FYCO1 Health Risk Pathogenic Cataract 18, Cataract 18
RS1240529273 EYA1 Health Risk Conflicting classifications of pathogenicity Melnick-Fraser syndrome, Branchiootorenal syndrome 1
RS1240536115 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1240552971 GFM2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency 39, Combined oxidative phosphorylation deficiency 39
RS1240601136 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Lung cancer
RS1240625960 CXCR4 Health Risk Pathogenic Warts, hypogammaglobulinemia
RS1240725448 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease axonal type 2K
RS1240736156 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS12407578 VPS13D Health Risk Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, VPS13D-related disorder
RS1240767654 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1240797253 FGD4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1240801740 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1240816309 PEX19 Health Risk Pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS1240823956 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1240838887 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS1240846419 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1240851280 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1240852654 MECOM Health Risk Likely pathogenic Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS1240860015 ZBTB20 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1240862092 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1240896329 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1240900244 HSPB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2F
RS1240929961 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1240941970 FBXL4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1240944758 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS1240946692 IFT122 Health Risk Likely pathogenic IFT122-related disorder, IFT122-related disorder
RS1240965365 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1240965450 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS1240995964 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
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