Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs937736862
rs937736862
1 1.000 0.120 9 136496526 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs398122513
rs398122513
BAX
1 1.000 0.120 19 48955799 missense variant G/A snv 0.700 0
dbSNP: rs1431156021
rs1431156021
2 0.925 0.120 2 25243904 missense variant C/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs199649035
rs199649035
2 1.000 0.120 19 17838014 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2307859
rs2307859
2 0.925 0.120 6 137874825 intron variant CCT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs398122840
rs398122840
BAX
2 0.925 0.160 19 48955714 frameshift variant GGGGGGG/-;GGGGGG;GGGGGGGG delins 0.700 0
dbSNP: rs199469667
rs199469667
3 0.925 0.120 X 71119380 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs4958351
rs4958351
3 0.882 0.120 5 153790814 intron variant G/A;T snv 0.31 0.010 < 0.001 1 2015 2015
dbSNP: rs661561
rs661561
3 0.882 0.200 6 137876194 intron variant A/C snv 0.62 0.50 0.010 1.000 1 2014 2014
dbSNP: rs786202195
rs786202195
ATM
3 0.925 0.280 11 108251012 stop gained T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs387906351
rs387906351
3 0.882 0.160 1 85270828 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs765576835
rs765576835
4 0.882 0.200 3 10036306 missense variant T/C snv 4.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs878853666
rs878853666
4 0.882 0.200 16 89803299 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1490204625
rs1490204625
5 0.925 0.160 5 87268486 missense variant G/A snv 0.010 < 0.001 1 2016 2016
dbSNP: rs3217927
rs3217927
5 0.827 0.120 12 4302638 3 prime UTR variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2239633
rs2239633
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs752021744
rs752021744
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.010 < 0.001 1 2016 2016
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2015 2015
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016