Disease: Celiac Disease
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1893592
UBASH3A
0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 12
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs13119723
KIAA1109
0.807 0.280 4 122297158 intron variant A/G snv 0.10 8
rs204999 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 13
rs212400
LOC105378083
0.925 0.200 6 159052542 non coding transcript exon variant A/G snv 0.64 2
rs2327832 0.790 0.320 6 137651931 intergenic variant A/G snv 0.16 10
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs864537
CD247
0.925 0.200 1 167442147 intron variant A/G snv 0.29 4
rs9357152 0.827 0.240 6 32697183 regulatory region variant A/G snv 0.24 5
rs17264332 0.925 0.200 6 137684378 intron variant A/G;T snv 2
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs10203477
LINC01185
0.925 0.200 2 60877850 intron variant A/T snv 0.48 2
rs2043211
CARD8
0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 29
rs6749371
STAT4
0.925 0.200 2 191037458 intron variant A/T snv 7.3E-02 2
rs11217040 0.925 0.200 11 118809939 regulatory region variant C/A snv 0.19 2
rs1457092
MYO9B
0.790 0.320 19 17193427 intron variant C/A snv 0.44 8
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 23
rs6679677
PHTF1
0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 26
rs187238
IL18
0.602 0.680 11 112164265 intron variant C/A;G snv 48
rs11221332
ETS1
0.763 0.280 11 128511079 intron variant C/A;T snv 13
rs1980422 0.776 0.320 2 203745673 intergenic variant C/A;T snv 9
rs424232 0.882 0.240 6 32240547 intergenic variant C/A;T snv 3
rs62323881 0.925 0.200 4 122117140 regulatory region variant C/A;T snv 2