Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 4
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 2
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 2
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 2
rs121913254 0.658 0.440 1 114713909 stop gained G/A;C;T snv 2
rs397514606 0.763 0.320 1 243695714 missense variant C/T snv 2
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 1
rs36053993 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 1
rs587782228 0.882 0.120 1 45330557 missense variant C/A;T snv 4.2E-06; 4.2E-06 1
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 2
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 7
rs121913274 0.645 0.320 3 179218304 missense variant A/C;G;T snv 3
rs121913403 0.683 0.240 3 41224622 missense variant C/A;G;T snv 3
rs121913396 0.732 0.200 3 41224607 missense variant A/C;G;T snv 2
rs28931588 0.701 0.200 3 41224606 missense variant G/A;C;T snv 2
rs121913407 0.763 0.240 3 41224645 missense variant T/C;G snv 1
rs121913409 0.708 0.400 3 41224646 missense variant C/A;G;T snv 1
rs149617956 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 1
rs28931589 0.695 0.240 3 41224613 missense variant G/A;C;T snv 1
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 2
rs1057519713
KIT
0.925 0.120 4 54736498 missense variant G/C snv 1
rs121913113 0.882 0.240 4 1806076 missense variant G/A snv 1
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 1
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv 1
rs137854567
APC
0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04 1