Disease: Autoimmune Diseases
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11676922
AFF3
0.925 0.160 2 100190478 intron variant T/A snv 0.51 4
rs17266594
BANK1
0.807 0.280 4 101829765 intron variant T/C snv 0.25 0.27 7
rs10516487
BANK1
0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 11
rs3733197
BANK1
0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 13
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs26232
MACIR
0.925 0.160 5 103261019 intron variant C/T snv 0.30 4
rs34536443
TYK2
0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 25
rs35018800
TYK2
0.790 0.160 19 10354167 missense variant G/A snv 4.6E-03 4.9E-03 9
rs548234
ATG5
0.763 0.360 6 106120159 intron variant C/T snv 0.76 11
rs3087456
CIITA ; LOC105371080
0.742 0.480 16 10877045 intron variant G/A snv 0.53 14
rs17561
IL1A
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 23
rs3811047
IL37
0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 10
rs6679677
PHTF1
0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 26
rs3789604
RSBN1 ; AP4B1-AS1
0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 9
rs1310182
AP4B1-AS1 ; PTPN22
0.882 0.360 1 113830881 intron variant A/C;G snv 0.56 4
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs33996649
PTPN22 ; AP4B1-AS1
0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 13
rs2488457
AP4B1-AS1 ; PTPN22
0.763 0.480 1 113872746 intron variant G/A;C snv 11
rs6478109
TNFSF15
0.752 0.320 9 114806486 upstream gene variant A/G snv 0.74 12
rs2736340 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 22
rs13277113
BLK
0.695 0.520 8 11491677 intron variant G/A snv 0.25 18
rs11586238 0.925 0.160 1 116720516 regulatory region variant C/G snv 0.19 4
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs10892279 1.000 0.120 11 118741072 intron variant G/A;T snv 0.25 3