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: 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: 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: 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: 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: rs377349459
rs377349459
ATM ; C11orf65
3 0.925 0.280 11 108332886 stop gained G/A snv 4.0E-06 5.6E-05 0.700 1.000 7 1998 2016
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
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: rs587779834
rs587779834
ATM
3 0.925 0.320 11 108284281 frameshift variant G/- delins 4.2E-05 0.700 1.000 18 1996 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: rs780240314
rs780240314
ATM
1 1.000 0.200 11 108272556 stop gained T/C;G snv 8.0E-06 4.2E-05 0.700 1.000 2 2008 2013
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: 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: 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
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: 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: rs730881294
rs730881294
ATM ; C11orf65
2 1.000 0.200 11 108335957 frameshift variant ATAAG/- del 8.0E-06 2.8E-05 0.700 1.000 12 1998 2016
dbSNP: rs730881295
rs730881295
ATM ; C11orf65
2 1.000 0.200 11 108343372 splice region variant GTGA/- delins 2.1E-05 0.700 1.000 4 1996 2003
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
2 1.000 0.200 11 108365359 missense variant C/G;T snv 1.6E-05 2.1E-05 0.810 1.000 29 1995 2017
dbSNP: rs864622290
rs864622290
ATM
2 1.000 0.200 11 108294952 frameshift variant GT/- delins 2.1E-05 0.700 0
dbSNP: rs587779815
rs587779815
ATM
2 1.000 0.200 11 108250804 stop gained C/T snv 8.0E-06 1.4E-05 0.710 1.000 8 1996 2016
dbSNP: rs747727055
rs747727055
ATM
2 1.000 0.200 11 108245000 missense variant C/T snv 8.1E-06 1.4E-05 0.800 1.000 6 2000 2014
dbSNP: rs781404312
rs781404312
ATM
2 1.000 0.200 11 108227627 start lost G/A snv 4.0E-06 1.4E-05 0.700 1.000 9 1996 2012