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
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs142441643 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 15
rs121913535 0.742 0.320 12 25245348 missense variant C/A;G;T snv 14
rs779707422 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 12
rs1214031315 0.882 0.040 12 112419123 splice region variant G/A snv 3
rs772301300 0.882 0.040 5 87331351 stop gained G/A snv 4.0E-06 3
rs1567813248 1.000 0.040 17 17219210 splice acceptor variant C/A snv 1
rs1555534667
NF1
1.000 0.040 17 31336653 stop gained A/C;T snv 1