Disease: Primary biliary cirrhosis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79 59
rs121434254
AIRE
0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 6