Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs1801157 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 46
rs909253 0.641 0.600 6 31572536 intron variant A/G;T snv 34
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs104894226 0.658 0.560 11 534285 missense variant C/A;G;T snv 29
rs11536889 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 27
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 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
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs148704956 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 19
rs8192284 0.724 0.720 1 154454494 missense variant A/C;T snv 19