Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
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
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
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
rs121918453 0.732 0.280 12 112450394 missense variant G/A;C;T snv 19
rs8192284 0.724 0.720 1 154454494 missense variant A/C;T snv 19
rs121918454 0.742 0.280 12 112450395 missense variant C/A;G;T snv 17
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs1057520009 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 14
rs13347 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 12
rs5743551 0.742 0.240 4 38806033 intron variant T/A;C snv 12
rs397507514 0.790 0.240 12 112450408 missense variant G/C;T snv 10