Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs796065343 0.776 0.080 1 36467833 missense variant G/A snv 12
rs121913616
MPL
0.790 0.120 1 43349337 missense variant TG/AA mnv 8
rs121913614
MPL
0.790 0.120 1 43349308 missense variant G/A snv 7
rs17292650
MPL
0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02 3
rs1057519752
MPL
1.000 0.080 1 43349307 missense variant A/C;G;T snv 1
rs201478192 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 12
rs556915505 0.851 0.080 3 169143780 missense variant T/C snv 4.0E-06 7.0E-06 5
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
rs4858647 0.925 0.080 3 24749884 intron variant C/A;G;T snv 2
rs121913520
KIT
1.000 0.080 4 54727443 missense variant G/A snv 4
rs3733609 1.000 0.080 4 105269705 missense variant T/A;C snv 6.4E-06; 3.4E-02 2
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs9376092 0.851 0.120 6 135106006 upstream gene variant C/A snv 0.24 10
rs562533120 0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 3
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs12343867 0.790 0.200 9 5074189 intron variant T/C snv 0.25 9
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
rs121912473 0.925 0.080 9 5070026 missense variant AA/TT mnv 3