Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs2239704 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 17
rs1057519802 5 150061765 missense variant A/C snv 2
rs121913512
KIT
0.851 0.120 4 54728055 missense variant A/C;G snv 9
rs8192284 0.724 0.720 1 154454494 missense variant A/C;T snv 19
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs148704956 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 19
rs121913393 5 150054083 missense variant A/G snv 2
rs1800023 1.000 0.040 3 46370817 intron variant A/G snv 0.29 2
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs909253 0.641 0.600 6 31572536 intron variant A/G;T snv 34
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs121913390 5 150073481 stop gained A/G;T snv 2
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs779530981 1.000 0.160 10 87933035 missense variant C/A snv 4
rs1057520014 5 150073480 missense variant C/A snv 1
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
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs121918454 0.742 0.280 12 112450395 missense variant C/A;G;T snv 17
rs13347 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 12
rs757333753 0.851 0.200 3 12618681 missense variant C/A;T snv 4.0E-06 6
rs724159945 1.000 12 11885968 missense variant C/A;T snv 3
rs1114167651 1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06 2
rs3921 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 8