Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1057519781
ALK
0.807 0.160 2 29209816 missense variant C/G snv 9
rs751661633 0.851 0.120 22 38984136 missense variant C/A snv 4.1E-06 6
rs6682925 0.776 0.160 1 67165579 intron variant C/T snv 0.47 11
rs13347 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 12
rs2072671
CDA
0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 16
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs121913240 0.672 0.440 12 25227342 missense variant T/A;C;G snv 24
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs17851045 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 27
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs213210 0.742 0.240 6 33208047 upstream gene variant A/C;G snv 11
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614