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: 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: 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: 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: 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
dbSNP: rs780619951
rs780619951
ATM
3 0.925 0.280 11 108259022 stop gained C/G;T snv 4.0E-05 0.700 1.000 7 1996 2014
dbSNP: rs786201675
rs786201675
ATM
4 0.925 0.320 11 108282838 frameshift variant TTATT/- delins 0.700 1.000 7 1998 2016
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: rs587776549
rs587776549
ATM
2 1.000 0.200 11 108272813 frameshift variant ATC/TGAT delins 0.700 1.000 6 1996 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: rs587781558
rs587781558
ATM
3 0.925 0.280 11 108271147 splice donor variant G/A;C;T snv 2.4E-05; 4.0E-06 0.700 1.000 6 1996 2014
dbSNP: rs587781658
rs587781658
ATM
2 1.000 0.200 11 108257512 frameshift variant CT/- delins 0.700 1.000 6 1996 2016
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: 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: rs786204543
rs786204543
ATM
2 1.000 0.200 11 108244090 frameshift variant T/- delins 0.700 1.000 6 1996 2016