Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1005999
rs1005999
1.000 0.080 2 104907333 intron variant C/T snv 0.25
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012