Disease: Celiac Disease
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
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
rs2275913
IL17A
0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 105
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs1800796
IL6-AS1 ; STEAP1B ; IL6
0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 74
rs187238
IL18
0.602 0.680 11 112164265 intron variant C/A;G snv 48
rs11209026
IL23R
0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 46
rs1946518
IL18
0.602 0.760 11 112164735 intron variant T/G snv 0.60 46
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 43
rs1799969
ICAM1
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 38
rs2043211
CARD8
0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 29
rs6679677
PHTF1
0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 26
rs35829419
NLRP3
0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 23
rs763361
CD226
0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 21
rs10754558
NLRP3
0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 20
rs2187668
LOC107986589 ; HLA-DQA2 ; HLA-DQA1
0.701 0.480 6 32638107 intron variant C/T snv 3.3E-03 20
rs6822844 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 20
rs35761398
CNR2
0.701 0.520 1 23875429 missense variant TT/CC mnv 19
rs706778
IL2RA
0.695 0.320 10 6056986 intron variant C/T snv 0.46 19