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
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs112295309 1.000 0.080 8 143813896 missense variant T/C;G snv 6.1E-04 3
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
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
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs121913338 0.677 0.400 7 140753354 missense variant T/A;C;G snv 24
rs121913369 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 12
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs1273593548 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1367644026 0.925 0.080 12 52520259 missense variant C/A;T snv 4.0E-06 5
rs1550117 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 11
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33