Gene: ATM ×
Source: ALL
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: rs28904921
rs28904921
ATM ; C11orf65
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: 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: 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: rs1800058
rs1800058
ATM
2 0.925 0.080 11 108289623 missense variant C/T snv 1.1E-02 1.1E-02 0.030 0.667 3 2003 2007
dbSNP: rs4986761
rs4986761
ATM
4 0.925 0.080 11 108254034 missense variant T/C snv 8.0E-03 7.7E-03 0.030 1.000 3 2002 2008
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: 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: rs228589
rs228589
ATM ; NPAT
2 0.925 0.080 11 108222481 intron variant A/T snv 0.58 0.54 0.020 1.000 2 2006 2007
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: rs139379666
rs139379666
ATM ; C11orf65
2 0.925 0.080 11 108365152 missense variant C/T snv 7.6E-05 5.6E-05 0.010 1.000 1 2019 2019
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: 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: 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: rs369642243
rs369642243
ATM
2 0.925 0.080 11 108253997 synonymous variant T/C snv 1.6E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs373759
rs373759
ATM ; C11orf65
3 0.882 0.120 11 108349930 intron variant C/T snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs376676328
rs376676328
ATM ; C11orf65
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
ATM ; C11orf65
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: 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
ATM ; C11orf65
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: 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: rs769142993
rs769142993
ATM ; C11orf65
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: rs1131691164
rs1131691164
ATM
3 0.925 0.280 11 108292689 stop gained C/T snv 8.0E-06 4.2E-05 0.700 0