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: rs3749171
rs3749171
0.807 0.120 2 240630275 missense variant C/T snv 0.16; 9.4E-06 0.19
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
Digestive System Diseases 0.020 1.000 2 2013 2019