Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519991 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 26
rs121913459 0.672 0.160 9 130872896 missense variant C/T snv 25
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs776746 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 21
rs3740066 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 20
rs799917 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 18
rs1239681664 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 15
rs4149117 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 15
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs796065343 0.776 0.080 1 36467833 missense variant G/A snv 12
rs2273697 0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 11
rs717620 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 10
rs121913370 0.763 0.360 7 140753393 missense variant T/C;G snv 10
rs568887534 0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06 9
rs12343867 0.790 0.200 9 5074189 intron variant T/C snv 0.25 9
rs1250394819 0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06 9
rs1190999960 0.807 0.240 11 65571690 missense variant G/A snv 9
rs636832 0.790 0.400 1 35897874 intron variant G/A snv 0.23 8
rs748843032 0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06 8
rs628031 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 8
rs762613037 0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06 7
rs683369 0.807 0.360 6 160130172 missense variant G/A;C;T snv 4.0E-06; 0.83; 4.0E-06 7
rs387906517 0.827 0.120 9 130862919 missense variant G/A snv 6
rs1801018 0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32 6