Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs12255372 0.667 0.480 10 113049143 intron variant G/A;T snv 28
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs2066827 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 21
rs13281615 0.716 0.360 8 127343372 intron variant A/G snv 0.43 18
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs7726159 0.790 0.160 5 1282204 intron variant C/A snv 0.29 10
rs119484086 0.851 0.080 17 12992957 missense variant C/A;T snv 4.0E-06; 5.3E-04 5
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131