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
RS2039619957 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2039633804 STUB1 Health Risk Pathogenic —
RS2039634238 STUB1 Health Risk Pathogenic Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS2039634438 KDM4B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2039635021 GCH1 Health Risk Likely pathogenic —
RS2039641869 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039642419 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039643136 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039644862 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039651443 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15
RS2039654207 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2039659434 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2039680672 KDM4B Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 65
RS2039682224 JMJD8;STUB1 Health Risk Pathogenic —
RS2039689429 USH2A Health Risk Pathogenic —
RS2039690812 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS2039691550 STUB1 Health Risk Pathogenic Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS2039692173 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS2039698086 ETFA Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2039698499 NALCN Health Risk Likely pathogenic —
RS2039704195 STUB1 Health Risk Pathogenic Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS2039704361 STUB1 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS2039704654 STUB1 Health Risk Conflicting classifications of pathogenicity —
RS2039705645 ETFA Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2039717357 ETFA Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2039718061 ETFA Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2039718120 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2039720333 ATP8A2 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS2039758874 ZFYVE26 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2039768709 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039773398 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039773989 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2039774778 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039775751 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039775781 ETFA Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2039775823 ETFA Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2039777078 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039782181 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2039786680 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2039789225 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS2039789839 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2039790239 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2039791235 ARMC9 Health Risk Pathogenic —
RS2039802744 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2039803495 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2039844134 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2039844218 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039844441 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2039844868 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2039845128 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2039845162 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039845956 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039846270 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2039846326 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2039866628 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS2039866854 GCH1 Health Risk Pathogenic Dystonia 5, Dystonia 5
RS2039877071 DCC Health Risk Pathogenic/Likely pathogenic —
RS2039894103 ZFYVE26 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2039897317 CEP290 Health Risk Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS2039902653 CEP290 Health Risk Likely pathogenic Nephronophthisis, Joubert syndrome
RS2039914110 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2039919583 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2039919698 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2039921355 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2039922261 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS2039933328 SYNJ1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 53
RS2039957389 CIITA Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2039957886 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2039961254 TRIM37 Health Risk Pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2039966813 TRIM37 Health Risk Pathogenic —
RS2039977646 ATRIP Health Risk Conflicting classifications of pathogenicity —
RS2039985700 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2039987359 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Nephronophthisis
RS2039989513 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2039993548 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2039997721 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2039997846 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2040001177 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS2040001634 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2040007280 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2040024535 PIEZO2 Health Risk Pathogenic —
RS2040036225 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2040037008 FOXP1 Health Risk Likely pathogenic —
RS2040042896 OCA2 Health Risk Pathogenic —
RS2040047006 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2040056901 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Joubert syndrome 23
RS2040059119 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2040072957 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2040073991 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2040074214 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2040076730 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040081209 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2040082093 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2040089822 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS2040089994 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040090240 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2040090741 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2040090895 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Pituitary stalk interruption syndrome
RS2040090995 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2040091615 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
« Prev 1 ... 1529 1530 1531 1532 1533 1534 1535 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →