Disease: Giant Cell Arteritis
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
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79 59
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs2004640
IRF5
0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 26
rs2736340 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 22
rs6822844 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 20
rs13277113
BLK
0.695 0.520 8 11491677 intron variant G/A snv 0.25 18
rs1143679
ITGAM
0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 14