Disease: Primary biliary cirrhosis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 88
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 56
rs2569190
CD14 ; TMCO6
0.620 0.560 5 140633331 intron variant A/G snv 0.57 39
rs694739
LOC102723878
0.763 0.320 11 64329761 upstream gene variant A/G snv 0.28 9
rs35730843
POLR2G
0.925 0.080 11 62760162 upstream gene variant A/C;G snv 0.12 2
rs3822659
WWC1
0.925 0.080 5 168431367 missense variant T/G snv 8.7E-02 0.12 2
rs4620530
CHRM3 ; CHRM3-AS1
0.925 0.080 1 239900521 intron variant T/G snv 0.44 2