Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61753793 0.851 0.120 2 47799002 missense variant T/C snv 3.6E-05 5.6E-05 3
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 3
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 3
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 2
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 2
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 2
rs104894421 0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 2
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 2
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 2
rs121434629 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 2
rs387906659 0.742 0.280 19 40257052 stop gained C/A;T snv 1
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 1
rs397507476 0.882 0.200 7 140778011 missense variant T/A;G snv 1
rs11547328 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 1
rs6413463 1.000 0.040 9 21970990 missense variant A/G;T snv 2.9E-05; 3.0E-04 1
rs869312828 0.807 0.080 5 177512369 missense variant C/T snv 1
rs147001633 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 1
rs121909629 0.882 0.200 8 38415905 missense variant C/T snv 1
rs121913488 0.807 0.120 13 28018505 missense variant C/A;G;T snv 1
rs138213197 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 1
rs121913502 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 1
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 1
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 1
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 1