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: rs532480170
rs532480170
ATM ; C11orf65
5 0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06 0.700 1.000 5 1996 2016
dbSNP: rs777849257
rs777849257
ATM
2 1.000 0.200 11 108253938 stop gained C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs770641163
rs770641163
ATM ; C11orf65
4 0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.710 1.000 9 2003 2019
dbSNP: rs758081262
rs758081262
ATM
4 0.851 0.360 11 108267258 stop gained C/T snv 1.2E-05 0.700 1.000 3 2012 2015
dbSNP: rs730881333
rs730881333
ATM
3 0.882 0.280 11 108243994 stop gained C/A;T snv 4.1E-06; 8.1E-06 0.700 1.000 2 2006 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: rs751168951
rs751168951
ATM ; C11orf65
1 1.000 0.200 11 108325308 splice acceptor variant A/G snv 8.0E-06 0.700 0
dbSNP: rs772926890
rs772926890
ATM
2 1.000 0.200 11 108251073 splice donor variant G/T snv 8.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs730881346
rs730881346
ATM
3 0.925 0.280 11 108257471 intron variant T/G snv 8.0E-06 7.0E-06 0.700 1.000 7 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: rs775036118
rs775036118
ATM
2 1.000 0.200 11 108307914 stop gained C/T snv 8.0E-06 0.700 1.000 2 2006 2013
dbSNP: rs730881336
rs730881336
ATM
3 0.925 0.280 11 108244867 stop gained C/T snv 8.0E-06 0.700 1.000 6 1998 2017
dbSNP: rs750663117
rs750663117
ATM
2 1.000 0.200 11 108272531 splice acceptor variant G/A snv 8.0E-06 0.700 1.000 2 1999 2015
dbSNP: rs587781511
rs587781511
ATM
1 1.000 0.200 11 108247029 missense variant A/G snv 8.0E-06 7.0E-06 0.800 1.000 23 1995 2017
dbSNP: rs780905851
rs780905851
ATM ; C11orf65
2 1.000 0.200 11 108345889 missense variant T/A;C;G snv 8.0E-06; 4.0E-06 0.700 1.000 20 1995 2017
dbSNP: rs587779846
rs587779846
ATM
2 1.000 0.200 11 108301760 frameshift variant C/- del 8.0E-06 0.700 1.000 9 1999 2016
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
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: rs764389018
rs764389018
ATM
2 1.000 0.200 11 108301658 stop gained C/G;T snv 8.0E-06 7.0E-06 0.700 1.000 5 1999 2012
dbSNP: rs376170600
rs376170600
ATM
2 1.000 0.200 11 108248977 stop gained C/A;G;T snv 8.0E-06 0.700 1.000 2 2003 2004
dbSNP: rs777301065
rs777301065
ATM
1 1.000 0.200 11 108251938 missense variant T/C snv 8.0E-06 0.700 1.000 20 1995 2017
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: rs938431501
rs938431501
ATM ; C11orf65
1 1.000 0.200 11 108345810 missense variant C/T snv 8.0E-06 0.700 1.000 2 2010 2014
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: 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: rs756987454
rs756987454
ATM
2 1.000 0.200 11 108295060 splice donor variant G/A;T snv 8.0E-06 0.700 1.000 4 1999 2016