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
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
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
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
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs2070600
AGER
0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 82
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
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
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 46
rs1049353
CNR1
0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 42
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67 41
rs1061622
TNFRSF1B
0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 33
rs6679677
PHTF1
0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 26
rs2104286
IL2RA
0.662 0.440 10 6057082 intron variant T/C snv 0.18 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
rs917997 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 20