Disease: Hashimoto Disease
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
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
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
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
rs3212227
IL12B
0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
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
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 33
rs225014
DIO2
0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 22
rs2736340 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 22
rs917997 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 20
rs72928038
BACH2
0.695 0.360 6 90267049 intron variant G/A snv 0.11 19
rs13277113
BLK
0.695 0.520 8 11491677 intron variant G/A snv 0.25 18
rs6887695 0.732 0.440 5 159395637 intron variant G/C snv 0.35 14
rs3733197
BANK1
0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 13
rs4409785 0.752 0.240 11 95578258 intron variant T/C snv 0.13 12
rs2298428
YDJC
0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18 9
rs1059703
IRAK1
0.851 0.280 X 154013378 missense variant G/A snv 0.67 6
rs121434257
AIRE
0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05 6