Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs121908587 0.827 0.120 4 54278380 missense variant C/T snv 6
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs748843032 0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06 8
rs754736070 1.000 0.080 4 99597206 missense variant T/C snv 8.0E-06 7.0E-06 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1407906280 0.882 0.120 12 68839467 missense variant C/T snv 4.0E-06 7.0E-06 3
rs9610915 1.000 0.080 22 38215073 3 prime UTR variant C/G snv 0.48 0.41 1
rs137852974 0.925 0.200 11 62691132 stop gained G/A snv 4.0E-06 2
rs1257378 1.000 0.080 11 94621792 intron variant A/T snv 1
rs1250394819 0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06 9
rs61764370 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs12573787 1.000 0.080 10 87863959 5 prime UTR variant G/A;C snv 1
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
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs121913516
KIT
1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 6
rs121913505
KIT
0.925 0.080 4 54695598 missense variant G/A snv 2.0E-05 2
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