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
RS1719950579 CC2D2A Health Risk Pathogenic Encephalocele, Polycystic kidney disease
RS1719958144 SRD5A3 Health Risk Pathogenic/Likely pathogenic SRD5A3-congenital disorder of glycosylation, Kahrizi syndrome
RS1720002282 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1720019762 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1720051488 RPL35A Health Risk Likely pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS1720118439 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1720121027 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1720124087 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, Polycystic kidney disease 2
RS1720126853 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1720127024 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1720128947 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease 2
RS1720129561 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, Polycystic kidney disease 2
RS1720189292 PIGG Health Risk Likely pathogenic Intellectual disability, autosomal recessive 53
RS1720223149 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1720230800 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1720235349 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1720236510 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, KIT-related disorder
RS1720262997 FRAS1 Health Risk Likely pathogenic —
RS1720325511 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1720325828 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1720428157 PKD2 Health Risk Likely pathogenic —
RS1720429890 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1720430411 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1720430638 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1720431219 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease 2
RS1720449752 LIPH Health Risk Pathogenic Woolly hair, autosomal recessive 2
RS1720594399 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1720595936 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1720606396 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1720729752 PDCD10 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1720752309 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1720770872 REST Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 27, Autosomal dominant nonsyndromic hearing loss 27
RS1720774022 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1720800547 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS1720848250 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS1720855394 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1720863460 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1720864617 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1720895403 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS1720921490 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1720934756 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1720937470 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1720997777 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1720997965 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1721001014 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1721102486 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1721107398 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1721198491 FGFR3 Health Risk Pathogenic/Likely pathogenic Muenke syndrome, Inborn genetic diseases
RS1721205608 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1721263353 PROM1 Health Risk Pathogenic —
RS1721306735 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, Limb-mammary syndrome
RS1721385740 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1721421041 FRAS1 Health Risk Pathogenic —
RS1721481933 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1721483506 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 6
RS1721486976 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS172149856 HRC;TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Brugada syndrome
RS172151858 TRPM4 Health Risk Pathogenic Progressive familial heart block type IB, Progressive familial heart block type IB
RS17215409 KCNA5 Health Risk Conflicting classifications of pathogenicity altered potassium channel function, Atrial fibrillation
RS17215437 KCNE3;LIPT2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Periodic paralysis
RS17215479 KCNQ1 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS17215500 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome 1, recessive
RS172155862 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS17216324 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, ABCC2-related disorder
RS1721712075 GFM1 Health Risk Likely pathogenic —
RS1721714409 PROM1 Health Risk Pathogenic Retinal macular dystrophy type 2, Retinal dystrophy
RS1721717504 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1721758840 OPA1 Health Risk Likely pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS1721762061 OPA1 Health Risk Likely pathogenic —
RS17217709 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS17217716 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS17217723 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1721780124 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1721792587 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1721821279 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS17218363 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1721846338 IFT80 Health Risk Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS1721865059 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1721982733 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1722161264 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS1722162523 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS1722173605 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS17221812 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS1722184814 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1722185166 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS17221854 KCNQ1 Health Risk Conflicting classifications of pathogenicity Acquired susceptibility to long QT syndrome 1, Long QT syndrome 1
RS1722191573 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS17222540 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS17222547 ABCC2 Health Risk Pathogenic ABCC2-related disorder, ABCC2-related disorder
RS17222589 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS17222610 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS17222624 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS17222632 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS17222674 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS17222716 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, ABCC2-related disorder
RS17222744 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS1722288511 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1722301014 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1722335253 HPS3 Health Risk Likely pathogenic —
RS1722344275 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
« Prev 1 ... 1202 1203 1204 1205 1206 1207 1208 ... 4509 Next »

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

Get Started Free →