Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7157599 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 6
rs116237496 1.000 0.040 8 101033687 upstream gene variant T/C snv 4.0E-02 1
rs76444744 1.000 0.040 2 101088883 intron variant T/C snv 8.1E-03 1
rs2162560 1.000 0.040 19 10168778 intron variant G/A snv 0.35 2
rs1566823361 0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs7840202 0.851 0.160 8 102296172 intron variant A/C snv 0.21 4
rs363050 0.790 0.240 20 10253609 intron variant G/A snv 0.57 8
rs1057518813 0.790 0.240 13 102873305 frameshift variant CT/- delins 8
rs145606134 0.882 0.240 X 102937494 missense variant A/G snv 5.4E-03 4.1E-03 5
rs4925 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 28
rs3764650 0.790 0.200 19 1046521 intron variant T/G snv 0.14 9
rs75316710 1.000 0.040 3 10508052 intron variant A/G snv 2.9E-02 1
rs117932393 1.000 0.040 9 106390428 intron variant C/T snv 8.4E-03 1
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 22
rs1314736087 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 5
rs80356733 0.790 0.200 1 11022451 missense variant G/T snv 7
rs80356734 0.851 0.160 1 11022464 missense variant A/G snv 4
rs190797076 1.000 0.040 4 110589931 intergenic variant G/A;T snv 9.7E-03 1
rs761715536 1.000 0.040 10 111079092 stop gained G/A;T snv 6.4E-06; 1.3E-05 3
rs863225264 0.827 0.240 1 11130747 missense variant C/T snv 6
rs184904296 1.000 0.040 3 112431166 intergenic variant A/C;T snv 1
rs74434895 1.000 0.040 1 113391450 intron variant G/A snv 6.8E-03 1
rs1800497 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 56
rs61819372 1.000 0.040 1 113529488 intron variant C/A snv 6.8E-03 1
rs10447760 0.851 0.040 7 114083210 upstream gene variant C/T snv 0.17 4