Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs3184504 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
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
rs1057519991 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 26
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
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
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
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
rs121913370 0.763 0.360 7 140753393 missense variant T/C;G snv 10
rs1190999960 0.807 0.240 11 65571690 missense variant G/A snv 9
rs1250394819 0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06 9