Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs1444669684 0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs2853669 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 35
rs1057519975 0.649 0.480 17 7675209 missense variant A/C;G;T snv 34
rs121913254 0.658 0.440 1 114713909 stop gained G/A;C;T snv 31
rs61764370 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs121913495 0.672 0.400 20 58909366 missense variant G/A;T snv 28
rs1801260 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 28
rs28933406 0.667 0.480 11 533875 missense variant G/C;T snv 27
rs1057519747 0.716 0.280 17 7675094 missense variant A/C;G;T snv 23
rs895520 0.689 0.320 2 100961475 intron variant G/A snv 0.35 23
rs121913409 0.708 0.400 3 41224646 missense variant C/A;G;T snv 21
rs121913412 0.724 0.280 3 41224633 missense variant A/C;G;T snv 19
rs121913238 0.732 0.240 12 25227343 missense variant G/C;T snv 17
rs1057519861 0.776 0.080 7 55181398 missense variant T/A snv 15
rs1057519781
ALK
0.807 0.160 2 29209816 missense variant C/G snv 9
rs886040738 0.851 13 32363188 frameshift variant G/- delins 7
rs267607845 0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 5
rs786201675
ATM
0.925 0.320 11 108282838 frameshift variant TTATT/- delins 4
rs267606985 1.000 12 27963693 missense variant A/G snv 3