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: 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: 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: 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: 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: 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: 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: 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: rs876660022
rs876660022
ATM ; C11orf65
2 1.000 0.200 11 108365336 frameshift variant AG/- delins 0.700 1.000 9 1996 2016
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: 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: rs587781353
rs587781353
ATM ; C11orf65
2 1.000 0.200 11 108345889 missense variant TG/AA mnv 0.700 1.000 7 1996 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: rs786202800
rs786202800
ATM ; C11orf65
2 1.000 0.200 11 108343338 frameshift variant TTTCAGTGCC/- delins 0.700 1.000 7 1998 2017
dbSNP: rs786203489
rs786203489
ATM ; C11orf65
2 1.000 0.200 11 108365173 frameshift variant A/- del 0.700 1.000 7 1996 2016
dbSNP: rs587778080
rs587778080
ATM ; C11orf65
2 1.000 0.200 11 108345869 stop gained C/A;G;T snv 4.0E-06 7.0E-06 0.700 1.000 6 1999 2016
dbSNP: rs587780639
rs587780639
ATM ; C11orf65
2 1.000 0.200 11 108332037 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 6 1998 2015
dbSNP: rs587781299
rs587781299
ATM ; C11orf65
3 0.925 0.280 11 108327665 frameshift variant -/A delins 0.700 1.000 6 1998 2016
dbSNP: rs748634900
rs748634900
ATM ; C11orf65
2 1.000 0.200 11 108343246 missense variant G/A snv 8.0E-06 0.700 1.000 6 1999 2011
dbSNP: rs758814126
rs758814126
ATM ; C11orf65
2 1.000 0.200 11 108354838 frameshift variant GAGAAACTCTC/- del 8.0E-06 0.700 1.000 6 1998 2013
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: rs587782554
rs587782554
ATM ; C11orf65
2 1.000 0.200 11 108320009 frameshift variant -/T;TT delins 4.0E-06 0.700 1.000 5 1996 2015
dbSNP: rs864622185
rs864622185
ATM ; C11orf65
2 1.000 0.200 11 108332759 splice region variant T/G snv 4.0E-06 0.700 1.000 5 1996 2015
dbSNP: rs876660134
rs876660134
ATM ; C11orf65
2 1.000 0.200 11 108312467 frameshift variant TAAAG/- delins 0.700 1.000 5 1996 2013