Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 24
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv 9
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs2229094 0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 17
rs104894226 0.658 0.560 11 534285 missense variant C/A;G;T snv 29
rs909253 0.641 0.600 6 31572536 intron variant A/G;T snv 34
rs2239704 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 17
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
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
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs779530981 1.000 0.160 10 87933035 missense variant C/A snv 4
rs1114167651 1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06 2
rs1239105602 1.000 0.160 10 87864168 5 prime UTR variant C/T snv 2
rs917927904 1.000 0.160 10 87864242 5 prime UTR variant G/T snv 7.0E-06 2
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs121918453 0.732 0.280 12 112450394 missense variant G/A;C;T snv 19
rs121918454 0.742 0.280 12 112450395 missense variant C/A;G;T snv 17
rs397507514 0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs757333753 0.851 0.200 3 12618681 missense variant C/A;T snv 4.0E-06 6