Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs752021744 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 29
rs2230926 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 27
rs2239633 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 12
rs3217927 0.827 0.120 12 4302638 3 prime UTR variant G/A;C snv 5
rs1490204625 0.925 0.160 5 87268486 missense variant G/A snv 5
rs878853666 0.882 0.200 16 89803299 missense variant G/A snv 4
rs765576835 0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06 4
rs786202195
ATM
0.925 0.280 11 108251012 stop gained T/A;C;G snv 3
rs387906351 0.882 0.160 1 85270828 frameshift variant T/-;TT delins 3
rs4958351 0.882 0.120 5 153790814 intron variant G/A;T snv 0.31 3
rs199469667 0.925 0.120 X 71119380 missense variant T/G snv 3
rs661561 0.882 0.200 6 137876194 intron variant A/C snv 0.62 0.50 3
rs398122840
BAX
0.925 0.160 19 48955714 frameshift variant GGGGGGG/-;GGGGGG;GGGGGGGG delins 2
rs1431156021 0.925 0.120 2 25243904 missense variant C/T snv 2
rs199649035 1.000 0.120 19 17838014 missense variant C/A;T snv 4.0E-06 2
rs2307859 0.925 0.120 6 137874825 intron variant CCT/- delins 2
rs398122513
BAX
1.000 0.120 19 48955799 missense variant G/A snv 1
rs937736862 1.000 0.120 9 136496526 stop gained G/A snv 1