Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
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
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
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
rs121918466 0.752 0.280 12 112450416 missense variant A/G snv 14
rs121918456 0.752 0.280 12 112473023 missense variant A/C;G snv 13
rs121918462 0.742 0.320 12 112450398 missense variant C/T snv 13
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv 13
rs121918461 0.827 0.240 12 112450362 missense variant A/C;G;T snv 12
rs137854550
NF1
0.790 0.360 17 31258500 missense variant A/C;G snv 10
rs397507514 0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs397507546 0.790 0.360 12 112489084 missense variant G/A;C;T snv 9
rs121918458 0.807 0.320 12 112489080 missense variant T/A;G snv 8