Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs119484086 0.851 0.080 17 12992957 missense variant C/A;T snv 4.0E-06; 5.3E-04 5
rs4919743 0.925 0.080 12 52915800 intron variant G/A snv 0.13 5
rs7726159 0.790 0.160 5 1282204 intron variant C/A snv 0.29 10
rs887303970 0.776 0.280 4 24799565 missense variant C/T snv 8.8E-06 7.0E-06 10
rs1057519912 0.776 0.200 X 71129408 missense variant C/G;T snv 11
rs2740574 0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78 12
rs74315364 0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03 13
rs1569686 0.752 0.400 20 32779273 intron variant G/A;C;T snv 15
rs755100942 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 17
rs1202989817 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 18
rs13281615 0.716 0.360 8 127343372 intron variant A/G snv 0.43 18
rs1047840 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs3803185 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 19
rs2066827 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 21
rs776746 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 21
rs34301344 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 22
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs12255372 0.667 0.480 10 113049143 intron variant G/A;T snv 28
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs2297518 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 30
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs486907 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 32
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36