Disease: Autoimmune thyroid disease (AITD)
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
rs731236
VDR
0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 81
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
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
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv 42
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
rs3761549
FOXP3
0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 18
rs1179251
IL22 ; LOC105369818
0.763 0.320 12 68251271 intron variant C/G snv 0.18 14
rs3733197
BANK1
0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 13
rs1053005
STAT3
0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 10
rs10004195
TLR10
0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 8
rs28665122
SELENOS
0.807 0.240 15 101277522 upstream gene variant C/T snv 0.24 7
rs17445836 0.851 0.320 16 85984057 intron variant G/A snv 0.15 5
rs2076740
TG
0.827 0.160 8 132971813 missense variant C/T snv 0.31 0.37 5
rs6479778
ARID5B
0.827 0.200 10 61929318 intron variant T/C;G snv 5
rs12492609
TMEM39A
0.882 0.040 3 119435715 intron variant C/T snv 0.14 3
rs2071400
TPO
0.882 0.120 2 1412867 intron variant C/T snv 0.11 3
rs7629750
TMEM39A
0.882 0.040 3 119455829 intron variant A/G snv 0.45 3
rs853326
TG
0.882 0.120 8 132897729 missense variant A/G snv 0.58 0.60 3
rs2227478
IL22 ; LOC105369818
0.925 0.040 12 68254842 upstream gene variant A/G snv 0.37 2