Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs12980275 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 23
rs121913485 0.716 0.400 4 1804372 missense variant A/G snv 18
rs121918462 0.742 0.320 12 112450398 missense variant C/T snv 13
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 12
rs796065343 0.776 0.080 1 36467833 missense variant G/A snv 12
rs12343867 0.790 0.200 9 5074189 intron variant T/C snv 0.25 9
rs121913616
MPL
0.790 0.120 1 43349337 missense variant TG/AA mnv 8
rs1057519819 0.851 0.240 15 66436750 missense variant T/C snv 6
rs1057520016 0.851 0.080 9 5089726 missense variant C/A;T snv 5
rs1057519721 0.882 0.120 9 5078360 missense variant A/G snv 4
rs10974944 0.882 0.160 9 5070831 intron variant C/G snv 0.25 4
rs12339666 0.925 0.080 9 5063296 intron variant G/T snv 0.34 3
rs2201862 0.925 0.080 3 168930251 downstream gene variant T/C snv 0.63 3
rs4495487 0.925 0.080 9 5072798 intron variant T/C snv 0.23 3
rs1057519802 5 150061765 missense variant A/C snv 2
rs1476891431
MPL
1 43337895 missense variant C/T snv 1
rs1319313254 9 5050807 missense variant C/T snv 4.0E-06 1
rs16754
WT1
0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 15