Disease: Giant Cell Arteritis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
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
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 44
rs1799969
ICAM1
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 38
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
rs3733197
BANK1
0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 13