Disease: Autoimmune Primary Adrenal Insufficiency
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 33
rs2104286
IL2RA
0.662 0.440 10 6057082 intron variant T/C snv 0.18 25
rs763361
CD226
0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 21
rs6822844 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 20
rs2111485 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 17
rs12150220
NLRP1
0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 14
rs3118470
IL2RA
0.752 0.360 10 6059750 intron variant T/A;C snv 10
rs231726 0.790 0.200 2 203876143 downstream gene variant C/T snv 0.36 7
rs3136534 0.807 0.240 4 122448621 downstream gene variant T/G snv 0.29 6
rs3827440
GPR174 ; LOC107985690
0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51 6
rs10931481
STAT4
0.827 0.240 2 191090126 intron variant G/A snv 0.66 5
rs3757247
BACH2
0.827 0.320 6 90247744 intron variant C/T snv 0.38 5
rs6473
CYP21A2 ; TNXB
0.851 0.160 6 32041127 missense variant G/A;C snv 3.7E-04; 8.4E-06 4
rs13422767
FAP
0.882 0.120 2 162243749 intron variant G/A snv 0.14 3
rs1896286 0.925 0.080 2 203967715 intergenic variant G/T snv 0.49 2
rs4274624
STAT4
0.925 0.080 2 191093930 intron variant C/G;T snv 2