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: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.020 1.000 2 2010 2018
dbSNP: rs1003623
rs1003623
ATM
2 0.925 0.080 11 108281855 intron variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs228595
rs228595
ATM
2 0.925 0.080 11 108234866 intron variant G/A snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs373759
rs373759
3 0.882 0.120 11 108349930 intron variant C/T snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs624366
rs624366
ATM
6 0.827 0.120 11 108283370 intron variant G/C snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs664143
rs664143
8 0.807 0.160 11 108354934 3 prime UTR variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs664677
rs664677
ATM
8 0.807 0.160 11 108272455 intron variant C/A;T snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs1555069815
rs1555069815
ATM
3 0.925 0.280 11 108249082 frameshift variant T/- del 0.700 0
dbSNP: rs1555070980
rs1555070980
ATM
3 0.925 0.280 11 108250907 stop gained T/G snv 0.700 0
dbSNP: rs1555093684
rs1555093684
ATM
2 0.925 0.280 11 108284414 frameshift variant GA/- delins 0.700 0
dbSNP: rs1555119041
rs1555119041
3 0.925 0.280 11 108325352 stop gained G/A;T snv 0.700 0
dbSNP: rs1565503137
rs1565503137
2 0.925 0.280 11 108317446 frameshift variant G/- delins 0.700 0
dbSNP: rs564652222
rs564652222
5 0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05 0.700 0
dbSNP: rs587779817
rs587779817
ATM
3 0.925 0.280 11 108251026 frameshift variant GA/- delins 0.700 0
dbSNP: rs587781653
rs587781653
ATM
3 0.925 0.280 11 108289737 frameshift variant G/- delins 0.700 0
dbSNP: rs768362387
rs768362387
ATM
5 0.851 0.360 11 108253846 stop gained C/A snv 0.700 0
dbSNP: rs777741666
rs777741666
3 0.925 0.080 11 108327759 splice donor variant G/A;T snv 0.700 0
dbSNP: rs786202743
rs786202743
ATM
3 0.925 0.280 11 108254013 stop gained C/T snv 0.700 0
dbSNP: rs869312754
rs869312754
ATM
3 0.925 0.120 11 108227594 splice acceptor variant G/T snv 0.700 0
dbSNP: rs869312755
rs869312755
ATM
3 0.925 0.280 11 108293436 stop gained C/T snv 0.700 0
dbSNP: rs786202826
rs786202826
3 0.925 0.280 11 108353805 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs749036865
rs749036865
ATM
3 0.925 0.280 11 108250834 stop gained C/A;G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs770641163
rs770641163
4 0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs532480170
rs532480170
5 0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs397514577
rs397514577
4 0.882 0.280 11 108317374 missense variant C/A snv 4.0E-06 0.700 0