Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs754541813 1.000 0.080 3 58123401 synonymous variant C/T snv 6.8E-05 2.8E-05 1
rs775014154 1.000 0.080 22 23181637 missense variant C/T snv 5.8E-05 7.0E-05 1
rs555607708 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs796065343 0.776 0.080 1 36467833 missense variant G/A snv 12
rs2273697 0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 11
rs1190999960 0.807 0.240 11 65571690 missense variant G/A snv 9
rs636832 0.790 0.400 1 35897874 intron variant G/A snv 0.23 8
rs387906517 0.827 0.120 9 130862919 missense variant G/A snv 6
rs121913448 0.827 0.120 9 130862976 missense variant G/A snv 5
rs267607040 0.851 0.320 18 44951948 missense variant G/A snv 5
rs4148356 0.851 0.120 16 16083418 missense variant G/A snv 2.3E-02 1.3E-02 4
rs141157255 0.882 0.120 12 98659331 missense variant G/A snv 4.0E-05 2.8E-05 3
rs1208076129 0.925 0.120 6 31164861 stop gained G/A snv 4.1E-06 2.1E-05 2
rs121913505
KIT
0.925 0.080 4 54695598 missense variant G/A snv 2.0E-05 2
rs1314838108 0.925 0.160 9 130854977 missense variant G/A snv 7.0E-06 2
rs137852974 0.925 0.200 11 62691132 stop gained G/A snv 4.0E-06 2
rs918140013 0.925 0.080 12 111447663 missense variant G/A snv 7.0E-06 2
rs1064156 1.000 0.080 9 130878519 missense variant G/A snv 4.0E-06 1
rs1178702025 1.000 0.080 18 44951912 missense variant G/A snv 1
rs121913453 1.000 0.080 9 130862962 missense variant G/A snv 1
rs1487152821 1.000 0.080 6 33180274 missense variant G/A snv 7.0E-06 1
rs6931104 1.000 0.080 6 151465042 intron variant G/A snv 0.54 1
rs755796482 1.000 0.080 12 111447512 missense variant G/A snv 4.1E-06 8.1E-06 1