Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs779315943 0.882 0.160 2 25247708 frameshift variant TTTCC/- del 5
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs63750953
HBB
0.790 0.400 11 5227097 5 prime UTR variant TT/- delins 7.0E-06 10
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs863224501 0.925 0.160 1 45331519 frameshift variant TCACGGACGGG/- delins 2.1E-05 4
rs886039925 1.000 17 43094481 frameshift variant TC/- delins 3
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs3212227 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs2282679
GC
0.645 0.480 4 71742666 intron variant T/G snv 0.21 38
rs78378222 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs20576 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs11556218 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 27
rs495828 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 24
rs238406 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 23
rs12212067 0.716 0.320 6 108659993 intron variant T/G snv 0.14 20
rs35866072 0.716 0.360 11 102713373 missense variant T/G snv 6.0E-02 9.8E-02 17
rs2149356 0.742 0.360 9 117711921 intron variant T/G snv 0.54 14
rs2243115 0.776 0.320 3 159988493 intron variant T/G snv 0.10 12
rs2602141 0.790 0.120 15 43432448 missense variant T/G snv 0.36 0.47 9
rs2708861 0.851 0.120 7 47977120 intron variant T/G snv 0.46 6