Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs121913502 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 19
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
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
rs104894365 0.827 0.320 12 25245345 missense variant C/T snv 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
rs1057519721 0.882 0.120 9 5078360 missense variant A/G snv 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
rs17849241 0.925 0.080 17 78358688 missense variant G/C;T snv 4.1E-06; 2.1E-04 3
rs562533120 0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 3
rs3733609 1.000 0.080 4 105269705 missense variant T/A;C snv 6.4E-06; 3.4E-02 2
rs4858647 0.925 0.080 3 24749884 intron variant C/A;G;T snv 2