Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913517
KIT
0.851 0.120 4 54727444 missense variant T/A;C;G snv 6
rs1285675735 0.827 0.200 15 45043384 synonymous variant C/G;T snv 1.1E-05; 1.1E-05 6
rs398122805 0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 6
rs74315366 0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 6
rs74315369 0.851 0.080 1 17044882 stop gained G/A;C snv 8.0E-06; 4.4E-05 6
rs750380279 0.851 0.200 5 218357 start lost T/A;C;G snv 8.7E-06; 8.7E-06 6
rs1057519711
KIT
0.882 0.240 4 54733168 missense variant T/A snv 5
rs1060503757 0.882 0.080 1 17024024 frameshift variant G/- delins 5
rs1131691049 0.882 0.080 1 17054019 start lost T/A snv 5
rs121908586 1.000 0.080 4 54274869 missense variant T/A;C snv 5
rs397516833 0.882 0.080 1 17028737 splice acceptor variant C/G snv 5
rs397516836 0.882 0.080 1 17024015 stop gained C/A;T snv 5
rs587781270 0.882 0.080 1 17033058 splice donor variant A/T snv 5
rs74315367 0.882 0.080 1 17024025 missense variant G/C snv 4.0E-06 5
rs74315370 0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05 5
rs786201063 0.882 0.080 1 17033059 splice donor variant C/T snv 5
rs786201161 0.882 0.080 1 17024076 splice acceptor variant T/C snv 5
rs786202732 0.882 0.080 1 17024041 missense variant A/G snv 5
rs786203251 0.882 0.080 1 17022649 missense variant G/A;T snv 5
rs993022333
KIT
0.851 0.080 4 54733173 missense variant A/C;T snv 5
rs1058930 0.882 0.040 10 95058362 missense variant G/A;C snv 1.0E-04; 3.7E-02 4
rs1060503751 0.882 0.080 1 17028691 frameshift variant AG/- delins 4
rs1060503764 0.925 0.080 1 17022655 frameshift variant -/A delins 4
rs1131691055 0.925 0.080 1 17044889 splice acceptor variant C/A;T snv 4
rs121913520
KIT
1.000 0.080 4 54727443 missense variant G/A snv 4