Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs201286421 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 5
rs1058930 0.882 0.040 10 95058362 missense variant G/A;C snv 1.0E-04; 3.7E-02 4
rs121913520
KIT
1.000 0.080 4 54727443 missense variant G/A snv 4
rs121913685
KIT
0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 4
rs267606600
NF1
1.000 0.120 17 31219018 frameshift variant AG/- del 1.4E-05 4
rs1312268347 0.925 0.120 9 133734172 start lost A/G snv 5.0E-06 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
rs200245469 0.925 0.080 1 17022724 missense variant G/A;C snv 4.0E-06 4
rs397516835 0.925 0.080 1 17024040 missense variant C/G;T snv 4
rs398123690 0.925 0.080 1 17044849 frameshift variant G/-;GGG delins 4
rs587782617 0.925 0.080 1 17023999 frameshift variant ATTTGTCTCC/- del 4
rs751000085 0.882 0.080 1 17028680 stop gained G/A;C snv 8.0E-06 4
rs762812025 0.882 0.080 1 17022689 frameshift variant CT/- delins 4.0E-06 4
rs786201316 0.925 0.080 1 17028712 frameshift variant T/CC delins 4
rs786202100 0.925 0.080 1 17044791 frameshift variant GAGGT/- delins 4
rs786203506 0.925 0.080 1 17028649 stop gained G/A;C;T snv 4
rs794728947 0.925 0.080 1 17033135 frameshift variant -/G delins 4.0E-06 4
rs878854575 0.882 0.080 1 17033075 stop gained T/A snv 4