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
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
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
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
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
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
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
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
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv 9
rs3921 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 8
rs7656411 0.790 0.320 4 153706503 downstream gene variant T/G snv 0.35 8
rs724159947 0.851 0.120 12 11869601 missense variant C/T snv 6
rs1057519766 0.851 0.080 13 28028203 missense variant G/C;T snv 5
rs757874631
CBL
0.882 0.120 11 119278211 missense variant T/A;C snv 4