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: rs2234997
rs2234997
ATM
1 1.000 0.200 11 108235716 missense variant T/A snv 1.6E-02 6.1E-02 0.010 1.000 1 2003 2003
dbSNP: rs2229019
rs2229019
ATM
1 1.000 0.200 11 108256283 stop gained C/A;T snv 3.9E-03 1.5E-02 0.700 1.000 1 2003 2003
dbSNP: rs11212587
rs11212587
ATM ; C11orf65
1 1.000 0.200 11 108315883 missense variant G/A snv 1.4E-03 1.2E-03 0.700 0
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: rs201963507
rs201963507
ATM ; C11orf65
2 1.000 0.200 11 108310287 stop gained A/G;T snv 1.0E-04 0.700 1.000 1 2008 2008
dbSNP: rs145053092
rs145053092
ATM
1 1.000 0.200 11 108244795 missense variant A/G snv 8.4E-05 9.1E-05 0.700 1.000 2 2010 2014
dbSNP: rs80159221
rs80159221
ATM
2 1.000 0.200 11 108250699 splice acceptor variant A/G;T snv 7.7E-05 0.700 0
dbSNP: rs55861249
rs55861249
ATM
3 0.925 0.280 11 108227806 stop gained C/A;T snv 7.2E-05; 2.0E-05 0.700 1.000 7 1996 2016
dbSNP: rs202206540
rs202206540
ATM ; C11orf65
2 1.000 0.200 11 108316069 missense variant G/A snv 6.0E-05 7.0E-06 0.700 0
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 12 1998 2016
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
4 0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05 0.720 1.000 9 1999 2014
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.800 1.000 19 1996 2016
dbSNP: rs780619951
rs780619951
ATM
3 0.925 0.280 11 108259022 stop gained C/G;T snv 4.0E-05 0.700 1.000 7 1996 2014
dbSNP: rs587781347
rs587781347
ATM
2 1.000 0.200 11 108250867 frameshift variant AA/- del 4.0E-05 3.5E-05 0.700 1.000 10 1998 2015
dbSNP: rs141087784
rs141087784
ATM
1 1.000 0.200 11 108289015 stop gained C/A;T snv 3.6E-05 4.2E-05 0.700 0
dbSNP: rs587781722
rs587781722
ATM ; C11orf65
3 0.925 0.280 11 108310305 stop gained C/T snv 3.2E-05 2.0E-04 0.700 1.000 2 1998 2003
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
4 1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05 0.800 1.000 25 1995 2017
dbSNP: rs587782652
rs587782652
ATM ; C11orf65
5 0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 0.710 1.000 11 1989 2019
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
4 0.882 0.320 11 108331885 inframe deletion TAGAATTTC/- delins 2.8E-05 1.4E-05 0.700 1.000 12 1995 2012
dbSNP: rs777925486
rs777925486
ATM ; C11orf65
1 1.000 0.200 11 108331470 stop gained T/C;G snv 2.8E-05; 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
3 0.925 0.280 11 108315911 missense variant G/A snv 2.8E-05 7.0E-06 0.700 1.000 12 1999 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 0.700 0
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 6 1996 2014
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
3 0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05 0.700 1.000 10 1996 2015
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 5 1998 2016