Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs555607708 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs36053993 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 31
rs777980327
APC
0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 21
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv 12
rs104894097 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 8
rs730882002 0.925 0.040 17 7674956 missense variant T/C snv 6
rs869025667
VHL
0.827 0.200 3 10149916 missense variant T/C snv 6
rs121908586 1.000 0.080 4 54274869 missense variant T/A;C snv 5
rs121913520
KIT
1.000 0.080 4 54727443 missense variant G/A snv 4
rs121909233 1.000 0.040 10 87864524 missense variant G/A snv 2
rs730881979 1.000 0.160 19 1220434 missense variant G/A snv 2
rs797044481 12 12717966 stop gained C/TAA delins 1
rs797044483 12 12718173 frameshift variant A/- del 1
rs1459045148 4 152346994 missense variant T/C snv 4.0E-06 1
rs797044482 12 12718118 frameshift variant -/T ins 1
rs1060501206 17 7675056 missense variant C/T snv 8.0E-06 1