Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs754284524 1.000 0.040 5 122074125 stop gained -/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC ins 4.0E-06 2
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs121913227 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs1057519855 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 11
rs386675647 0.790 0.240 4 69098619 missense variant AT/TC mnv 10
rs397517108 0.790 0.120 7 55181312 missense variant GC/TT mnv 9
rs35502531 0.827 0.160 3 37047639 missense variant AA/GC mnv 8
rs1057519853 0.851 0.080 9 77794572 missense variant TG/AA mnv 6
rs878853419
APC
1.000 0.120 5 112835073 stop gained CC/AT mnv 2
rs67904882 4 69480846 missense variant GA/TT mnv 1
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs11571658 0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 6
rs16405 0.882 0.120 10 101553963 3 prime UTR variant AACAGTGGA/- del 0.31 4
rs868257011 0.925 0.080 10 87961042 frameshift variant TACTT/- del 4
rs777875898 1.000 0.120 9 111594264 frameshift variant A/- del 4.0E-06 7.0E-06 2
rs886041332 10 87960962 frameshift variant A/- del 2
rs1057519840 5 68295257 inframe deletion GACAAACGTATGAACAGC/- del 1
rs1057519843
APC
5 112839522 frameshift variant AAGATTGGAAC/- del 1