Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1057519960 0.827 0.280 11 66063413 missense variant A/G snv 7
rs1057520007 0.701 0.440 17 7674917 missense variant T/A;C;G snv 21
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1131691041 17 7676271 frameshift variant -/A delins 3
rs11540652 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs1178981336 1.000 0.040 9 113424228 frameshift variant -/G delins 7.0E-06 2
rs118101777 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 42
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 19
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs121913488 0.807 0.120 13 28018505 missense variant C/A;G;T snv 7
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs121913502 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 19
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs12498609 4 105234028 missense variant C/G;T snv 6.3E-02; 4.0E-06 1
rs1265794840 0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 6