Disease: Autoimmune Diseases
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
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
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
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs2070600
AGER
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs3212227
IL12B
0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
rs2243250
IL4
0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 61
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79 59
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs1883832
CD40
0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 52
rs11209026
IL23R
0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 46
rs1801274
FCGR2A
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 46
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 44
rs755622
MIF-AS1 ; MIF
0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs187084
TLR9
0.641 0.480 3 52227015 intron variant A/G snv 0.38 36
rs1061622
TNFRSF1B
0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 33
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 33
rs745738344
TNF
0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 28
rs2004640
IRF5
0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 26