Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5498
rs5498
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
Congenital atresia of extrahepatic bile duct
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 < 0.001 1 2005 2005