Disease: Cholangitis, Sclerosing
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
rs3197999
MST1 ; APEH
0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 16
rs11168249
HDAC7
0.807 0.120 12 47814585 intron variant T/C snv 0.50 9
rs3749171
GPR35
0.807 0.120 2 240630275 missense variant C/T snv 0.16; 9.4E-06 0.19 9
rs11676348 0.790 0.160 2 218145423 regulatory region variant C/G;T snv 8
rs3748816
MMEL1
0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46 7
rs7556897 0.807 0.120 2 227795396 intergenic variant C/G;T snv 7
rs12369214
RIC8B
0.807 0.120 12 106804833 intron variant G/A snv 0.41 6
rs7426056 0.807 0.120 2 203747335 regulatory region variant A/G snv 0.81 6
rs1452787
TCF4
0.827 0.160 18 55539976 intron variant A/G snv 0.24 5
rs2836883 0.882 0.080 21 39094818 intergenic variant G/A snv 0.23 4
rs853974 0.882 0.120 6 126747838 intron variant T/C snv 0.77 3
rs13140464 0.925 0.040 4 122578590 regulatory region variant G/T snv 0.10 2
rs1788097
CD226
0.925 0.040 18 69876452 intron variant C/T snv 0.56 2
rs4147359 0.925 0.040 10 6066476 upstream gene variant G/A snv 0.33 2
rs56258221
LOC105377891
0.925 0.040 6 90320722 intron variant T/C snv 0.13 2
rs60652743
PRKD2
0.925 0.040 19 46702450 intron variant A/G snv 0.16 2
rs6720394
MIR4435-2HG
0.925 0.040 2 111231795 intron variant T/G snv 0.11 2
rs7937682
PPP2R1B ; SIK2
0.925 0.040 11 111709215 intron variant G/A;C snv 2