Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs121918459 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs397507520 0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs121918455 0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs4553808 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs17851045 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 27
rs121918460 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 24
rs121918457 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 24
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs397507545 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 20
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 19
rs121918453 0.732 0.280 12 112450394 missense variant G/A;C;T snv 19
rs397507531 0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs121918454 0.742 0.280 12 112450395 missense variant C/A;G;T snv 17