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: rs12479056
rs12479056
1.000 0.040 2 60948177 synonymous variant T/C snv 0.56 0.62
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
Digestive System Diseases 0.700 1.000 1 2013 2013