Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs937475913 0.790 0.120 8 47936435 missense variant T/C snv 4.0E-06 7
rs125701 0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13 7
rs1883965 0.807 0.160 1 11262099 intron variant A/G snv 0.63 8
rs2228526 0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19 13
rs138213197 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 24
rs1799796 0.790 0.240 14 103699590 intron variant T/A;C snv 0.31 7
rs28360071 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
rs3917887 0.776 0.240 17 34255979 non coding transcript exon variant AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC delins 0.33 8
rs12529 0.776 0.280 10 5094459 missense variant C/G snv 0.50 0.45 10
rs28360317 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 15
rs6869366 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 18
rs2295080 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 20
rs402710 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 18
rs7003908 0.716 0.320 8 47858141 intron variant C/A snv 0.66 16
rs7804372 0.716 0.320 7 116554174 intron variant T/A snv 0.27 19
rs3730358 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 14
rs1056827 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 24
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs20576 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs4143815 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 20
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs1805377 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 19