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
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
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
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
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs3212227
IL12B
0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
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
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 46
rs755622
MIF-AS1 ; MIF
0.611 0.720 22 23894205 intron variant G/C snv 0.26 44
rs1061622
TNFRSF1B
0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 33
rs12785878
NADSYN1
0.677 0.520 11 71456403 intron variant G/A;T snv 25
rs696
NFKBIA
0.708 0.520 14 35401887 3 prime UTR variant C/T snv 0.45 22
rs6822844 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 20
rs4246905
TNFSF15
0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 16
rs4810485
CD40
0.732 0.480 20 46119308 intron variant T/A;G snv 16
rs1893217
PTPN2
0.742 0.440 18 12809341 intron variant A/G snv 0.12 14
rs30187
ERAP1
0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 14
rs228648
UTS2
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 13
rs7528684
FCRL3
0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 13
rs2488457
AP4B1-AS1 ; PTPN22
0.763 0.480 1 113872746 intron variant G/A;C snv 11