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
RS1584776308 CFTR Health Risk Likely pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
RS1584776330 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1584776437 CFTR Health Risk Conflicting classifications of pathogenicity Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
RS1584777699 POT1 Health Risk Pathogenic/Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1584777802 POT1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1584777876 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1584784850 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1584784895 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584785072 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584785196 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1584786373 CFTR Health Risk Pathogenic CFTR-related disorder, CFTR-related disorder
RS1584786454 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1584786892 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS1584787119 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1584787657 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584787716 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1584787782 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584789180 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1584789226 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1584789267 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584789514 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1584790302 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1584791977 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1584792042 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1584793368 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1584793451 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584793546 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584793633 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1584796761 KMT2E Health Risk Likely pathogenic —
RS1584798316 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584799745 KIAA1549 Health Risk Pathogenic Retinitis pigmentosa 86, Retinitis pigmentosa 86
RS1584800138 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1584800601 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS1584800607 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS1584802161 KMT2E Health Risk Likely pathogenic See cases, See cases
RS1584802744 KMT2E Health Risk Pathogenic/Likely pathogenic O'Donnell-Luria-Rodan syndrome, See cases
RS1584803713 KMT2E Health Risk Likely pathogenic See cases, See cases
RS1584803745 KMT2E Health Risk Pathogenic/Likely pathogenic See cases, Inborn genetic diseases
RS1584803942 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, See cases
RS1584805072 KMT2E Health Risk Likely pathogenic See cases, See cases
RS1584805745 KMT2E Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1584805934 SHH Health Risk Likely pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS1584806077 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS1584807148 KRIT1 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1584807616 ABCB4 Health Risk Likely pathogenic —
RS1584807827 KMT2E Health Risk Likely pathogenic See cases, See cases
RS1584807875 KMT2E Health Risk Conflicting classifications of pathogenicity See cases, O'Donnell-Luria-Rodan syndrome
RS1584808269 KMT2E Health Risk Pathogenic/Likely pathogenic See cases, O'Donnell-Luria-Rodan syndrome
RS1584810152 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS1584810167 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584812217 CFTR Health Risk Pathogenic/Likely pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
RS1584812361 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584812425 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1584812646 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584812696 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584812777 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584812778 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS1584813819 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS1584813846 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1584817344 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584817521 KMT2E Health Risk Likely pathogenic See cases, See cases
RS1584819340 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584819461 KMT2E Health Risk Likely pathogenic See cases, See cases
RS1584821306 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS1584821736 CFTR Health Risk Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1584822237 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584822486 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1584824301 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584830149 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584830154 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584837090 CFTR Health Risk Pathogenic/Likely pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
RS1584837173 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584841841 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS1584842021 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1584842898 KCNH2 Health Risk Pathogenic —
RS1584843033 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome
RS1584843078 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome 2
RS1584844589 EZH2 Health Risk Likely pathogenic Weaver syndrome, Weaver syndrome
RS1584845045 KCNH2 Health Risk Likely pathogenic —
RS1584845263 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS1584846819 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1584846827 KCNH2 Health Risk Likely pathogenic Congenital long QT syndrome, Congenital long QT syndrome
RS1584847173 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome
RS1584848275 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1584848754 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1584848901 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1584849005 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1584850172 CFTR Health Risk Pathogenic CFTR-related disorder, CFTR-related disorder
RS1584850283 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1584850710 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1584851947 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1584852174 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1584852351 KCNH2 Health Risk Pathogenic/Likely pathogenic Congenital long QT syndrome, Long QT syndrome
RS1584855956 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome 2
RS1584856497 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome 2
RS1584856544 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1584862620 EZH2 Health Risk Likely pathogenic Weaver syndrome, Weaver syndrome
RS1584862929 EZH2 Health Risk Likely pathogenic Weaver syndrome, Weaver syndrome
RS1584863723 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome 2, Long QT syndrome 2
RS1584867379 CEP41 Health Risk Likely pathogenic Joubert syndrome 15, Joubert syndrome 15
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