Disease: Primary sclerosing cholangitis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
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
rs1799969
ICAM1
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 38
rs763361
CD226
0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 21
rs6822844 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 20
rs601338
FUT2 ; LOC105447645
0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 19
rs6840978
IL21-AS1
0.776 0.160 4 122633552 intron variant C/T snv 0.16 10
rs13119723
KIAA1109
0.807 0.280 4 122297158 intron variant A/G snv 0.10 8
rs13151961
KIAA1109
0.827 0.200 4 122194347 intron variant A/G snv 0.11 7
rs3748816
MMEL1
0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46 7