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
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
rs121918462 0.742 0.320 12 112450398 missense variant C/T snv 13
rs796065343 0.776 0.080 1 36467833 missense variant G/A snv 12
rs9376092 0.851 0.120 6 135106006 upstream gene variant C/A snv 0.24 10
rs104894365 0.827 0.320 12 25245345 missense variant C/T snv 9
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
rs397507510 0.776 0.280 12 112450361 missense variant G/A;C;T snv 8
rs121913614
MPL
0.790 0.120 1 43349308 missense variant G/A snv 7
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
rs12342421 0.851 0.080 9 5065750 intron variant G/C snv 0.23 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
rs121913520
KIT
1.000 0.080 4 54727443 missense variant G/A snv 4
rs121912473 0.925 0.080 9 5070026 missense variant AA/TT mnv 3
rs121913504 0.882 0.080 19 17837200 missense variant G/A snv 3
rs12339666 0.925 0.080 9 5063296 intron variant G/T snv 0.34 3
rs1259653415 1.000 0.080 3 196071416 missense variant T/C snv 7.0E-06 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
rs1200469268 0.925 0.080 9 104830968 missense variant C/A snv 7.0E-06 2