Disease: Graves Disease
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
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs763780
IL17F
0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 87
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
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs7574865
STAT4
0.574 0.720 2 191099907 intron variant T/G snv 0.79 59
rs1800471
TGFB1
0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 48
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 47
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
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 40
rs1799969
ICAM1
0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 38
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 33
rs696217
GHRL ; GHRLOS
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 32
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
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48 22
rs12976445
SPACA6 ; SPACA6P-AS ; MIRLET7E ; MIR125A
0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 20
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