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: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.100 0.786 14 2003 2019
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: rs28904921
rs28904921
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.780 0.875 8 1998 2016
dbSNP: rs1800057
rs1800057
ATM
11 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.040 1.000 4 2002 2018
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: rs1800054
rs1800054
ATM
7 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.040 1.000 4 2006 2010
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: rs769142993
rs769142993
7 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs587782652
rs587782652
5 0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 0.700 0
dbSNP: rs758081262
rs758081262
ATM
4 0.851 0.360 11 108267258 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs768362387
rs768362387
ATM
5 0.851 0.360 11 108253846 stop gained C/A snv 0.700 0
dbSNP: rs1800056
rs1800056
ATM
6 0.882 0.120 11 108267276 missense variant T/C snv 8.7E-03 8.5E-03 0.020 1.000 2 2004 2008
dbSNP: rs1801673
rs1801673
ATM
3 0.882 0.120 11 108304736 missense variant A/T snv 4.9E-03 4.4E-03 0.010 1.000 1 2008 2008
dbSNP: rs2227924
rs2227924
ATM
3 0.882 0.080 11 108251865 missense variant C/G snv 3.9E-03 1.5E-02 0.010 1.000 1 2003 2003
dbSNP: rs3092856
rs3092856
ATM
3 0.882 0.120 11 108289005 missense variant C/T snv 1.2E-02 2.2E-02 0.010 1.000 1 2018 2018
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: rs376676328
rs376676328
5 0.882 0.280 11 108353828 missense variant A/G snv 2.2E-04 1.8E-04 0.010 1.000 1 2007 2007
dbSNP: rs587779852
rs587779852
4 0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05 0.710 1.000 1 2009 2009
dbSNP: rs730881333
rs730881333
ATM
3 0.882 0.280 11 108243994 stop gained C/A;T snv 4.1E-06; 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs17174393
rs17174393
4 0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05 0.700 0
dbSNP: rs397514577
rs397514577
4 0.882 0.280 11 108317374 missense variant C/A snv 4.0E-06 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: rs587776547
rs587776547
4 0.882 0.320 11 108331885 inframe deletion TAGAATTTC/- delins 2.8E-05 1.4E-05 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