Gene: ATM ×
Source: CLINVAR ×
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: rs121434220
rs121434220
ATM ; C11orf65
2 1.000 0.200 11 108330233 stop gained C/T snv 4.0E-06 0.700 1.000 14 1996 2016
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
4 0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05 0.700 1.000 13 1996 2014
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
2 1.000 0.200 11 108335959 stop gained A/C;G;T snv 1.6E-05 0.700 1.000 13 1996 2016
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
2 1.000 0.200 11 108365415 frameshift variant -/A delins 0.700 1.000 12 1996 2016
dbSNP: rs730881386
rs730881386
ATM ; C11orf65
2 1.000 0.200 11 108365324 splice acceptor variant G/A;C snv 0.700 1.000 12 1996 2017
dbSNP: rs1450394308
rs1450394308
ATM ; C11orf65
2 1.000 0.200 11 108332851 frameshift variant TATTA/- delins 4.0E-06 0.700 1.000 11 1996 2015
dbSNP: rs587779817
rs587779817
ATM
3 0.925 0.280 11 108251026 frameshift variant GA/- delins 0.700 1.000 11 1996 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: rs587782719
rs587782719
ATM ; C11orf65
4 0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 11 2006 2017
dbSNP: rs267606668
rs267606668
ATM ; C11orf65
2 1.000 0.200 11 108332848 missense variant TG/GC mnv 0.700 1.000 10 1998 2016
dbSNP: rs1555151928
rs1555151928
ATM ; C11orf65
1 1.000 0.200 11 108365410 frameshift variant G/- del 0.700 1.000 9 1996 2016
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: rs587781831
rs587781831
ATM
2 1.000 0.200 11 108235719 frameshift variant A/- del 4.0E-06 0.700 1.000 9 2004 2017
dbSNP: rs587781927
rs587781927
ATM
2 1.000 0.200 11 108293479 splice donor variant T/A;C snv 4.0E-06 0.700 1.000 9 1989 2014
dbSNP: rs587781978
rs587781978
ATM
2 1.000 0.200 11 108244913 frameshift variant T/- delins 0.700 1.000 9 1999 2014
dbSNP: rs876660022
rs876660022
ATM ; C11orf65
2 1.000 0.200 11 108365336 frameshift variant AG/- delins 0.700 1.000 9 1996 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 8 1999 2015
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 8 2003 2019
dbSNP: rs876660382
rs876660382
ATM ; C11orf65
2 1.000 0.200 11 108365356 stop gained G/A;T snv 4.0E-06 0.700 1.000 8 1996 2016
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: rs587781353
rs587781353
ATM ; C11orf65
2 1.000 0.200 11 108345889 missense variant TG/AA mnv 0.700 1.000 7 1996 2016
dbSNP: rs587781730
rs587781730
ATM
2 1.000 0.200 11 108307929 frameshift variant A/-;AA delins 0.700 1.000 7 1995 2016
dbSNP: rs587781905
rs587781905
ATM ; C11orf65
2 1.000 0.200 11 108331442 splice region variant GAGA/- delins 0.700 1.000 7 1996 2011
dbSNP: rs587782124
rs587782124
ATM
2 1.000 0.200 11 108252914 splice donor variant T/G snv 4.0E-06 0.700 1.000 7 1998 2014
dbSNP: rs748840480
rs748840480
ATM
3 0.925 0.280 11 108245027 splice donor variant G/A;C;T snv 1.6E-05 0.700 1.000 7 2003 2018