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: rs28904921
rs28904921
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.700 1.000 21 1996 2016
dbSNP: rs587779852
rs587779852
4 0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05 0.700 1.000 19 1998 2018
dbSNP: rs587779866
rs587779866
3 0.925 0.280 11 108331877 splice acceptor variant A/C;G snv 8.0E-06 0.700 1.000 11 1998 2016
dbSNP: rs587782652
rs587782652
5 0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 0.700 1.000 11 2002 2016
dbSNP: rs730881369
rs730881369
ATM
3 0.925 0.280 11 108289761 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.700 1.000 11 1999 2015
dbSNP: rs564652222
rs564652222
5 0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05 0.700 1.000 10 1999 2013
dbSNP: rs587776551
rs587776551
ATM
4 1.000 0.200 11 108281168 missense variant G/A;T snv 1.6E-05 1.4E-05 0.700 1.000 10 1998 2016
dbSNP: rs587779815
rs587779815
ATM
2 1.000 0.200 11 108250804 stop gained C/T snv 8.0E-06 1.4E-05 0.700 1.000 10 1996 2017
dbSNP: rs587781894
rs587781894
4 0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 0.700 1.000 10 1999 2013
dbSNP: rs1137887
rs1137887
ATM
3 0.925 0.280 11 108256340 splice region variant G/A snv 4.4E-05 2.8E-05 0.700 1.000 9 1998 2016
dbSNP: rs371638537
rs371638537
2 1.000 0.200 11 108335959 stop gained A/C;G;T snv 1.6E-05 0.700 1.000 9 1996 2017
dbSNP: rs376603775
rs376603775
ATM
3 0.925 0.280 11 108304801 stop gained C/A;T snv 2.0E-05 3.5E-05 0.700 1.000 9 1998 2016
dbSNP: rs587779818
rs587779818
ATM
2 1.000 0.200 11 108227873 stop gained G/A snv 7.0E-06 0.700 1.000 9 2000 2017
dbSNP: rs587781558
rs587781558
ATM
3 0.925 0.280 11 108271147 splice donor variant G/A;C;T snv 2.4E-05; 4.0E-06 0.700 1.000 9 1996 2018
dbSNP: rs747727055
rs747727055
ATM
2 1.000 0.200 11 108245000 missense variant C/T snv 8.1E-06 1.4E-05 0.700 1.000 8 1998 2015
dbSNP: rs770641163
rs770641163
4 0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 8 1996 2017
dbSNP: rs139770721
rs139770721
3 0.925 0.280 11 108315911 missense variant G/A snv 2.8E-05 7.0E-06 0.700 1.000 7 1999 2016
dbSNP: rs17174393
rs17174393
4 0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05 0.700 1.000 7 1996 2016
dbSNP: rs377349459
rs377349459
3 0.925 0.280 11 108332886 stop gained G/A snv 4.0E-06 5.6E-05 0.700 1.000 7 1998 2017
dbSNP: rs587779844
rs587779844
ATM
2 1.000 0.200 11 108301698 missense variant C/G;T snv 1.6E-05 7.0E-06 0.700 1.000 7 1998 2017
dbSNP: rs587779872
rs587779872
4 1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05 0.700 1.000 7 1998 2017
dbSNP: rs587782719
rs587782719
4 0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 7 2006 2013
dbSNP: rs769142993
rs769142993
7 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.700 1.000 7 2000 2012
dbSNP: rs772821016
rs772821016
ATM
4 0.882 0.320 11 108244873 stop gained C/T snv 4.0E-06 0.700 1.000 7 1999 2013
dbSNP: rs774925473
rs774925473
3 0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05 0.700 1.000 7 1996 2017