Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 9
rs3921 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 8
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
rs121918454 0.742 0.280 12 112450395 missense variant C/A;G;T snv 17
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 24
rs2229094 0.776 0.320 6 31572779 missense variant T/C snv 0.27 0.27 17
rs2239704 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 17
rs13347 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 12
rs7656411 0.790 0.320 4 153706503 downstream gene variant T/G snv 0.35 8
rs148704956 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 19
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
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
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
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
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