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: rs2292553
rs2292553
2 218282080 missense variant G/A snv 0.55 0.43
CUI: C0242216
Disease: Biliary calculi
Biliary calculi
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2018 2018