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
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
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
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
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121913233 0.627 0.520 11 533874 missense variant T/A;C;G snv 37
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs121913240 0.672 0.440 12 25227342 missense variant T/A;C;G snv 24
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs121913255 0.667 0.400 1 114713907 missense variant T/A;G snv 26
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 44
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 24
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 12
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv 12
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1444669684 0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188