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: 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: 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: 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: 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: rs587781894
rs587781894
ATM ; C11orf65
4 0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 0.700 1.000 14 1998 2013
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: 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: 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: 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: rs587780645
rs587780645
ATM ; C11orf65
2 1.000 0.200 11 108365415 frameshift variant -/A delins 0.700 1.000 12 1996 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: 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: 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: 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: rs786203606
rs786203606
ATM
2 1.000 0.200 11 108227626 start lost T/C snv 4.0E-06 7.0E-06 0.700 1.000 10 1996 2012
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
3 0.925 0.200 11 108365476 stop gained C/T snv 1.6E-05 7.0E-06 0.700 1.000 9 1996 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