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: rs786201675
rs786201675
ATM
4 0.925 0.320 11 108282838 frameshift variant TTATT/- delins 0.700 1.000 7 1998 2016
dbSNP: rs786204433
rs786204433
ATM
2 1.000 0.200 11 108304822 stop gained C/T snv 7.0E-06 0.700 1.000 7 2003 2015
dbSNP: rs587776549
rs587776549
ATM
2 1.000 0.200 11 108272813 frameshift variant ATC/TGAT delins 0.700 1.000 6 1996 2016
dbSNP: rs587779818
rs587779818
ATM
2 1.000 0.200 11 108227873 stop gained G/A snv 7.0E-06 0.700 1.000 6 2000 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: 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: rs786204543
rs786204543
ATM
2 1.000 0.200 11 108244090 frameshift variant T/- delins 0.700 1.000 6 1996 2016
dbSNP: rs864622490
rs864622490
ATM
2 1.000 0.200 11 108282796 stop gained G/A snv 4.0E-06 1.4E-05 0.700 1.000 6 1999 2014
dbSNP: rs376603775
rs376603775
ATM
3 0.925 0.280 11 108304801 stop gained C/A;T snv 2.0E-05 3.5E-05 0.700 1.000 5 1998 2016
dbSNP: rs557012154
rs557012154
ATM
2 1.000 0.200 11 108244927 stop gained C/T snv 4.0E-06 0.700 1.000 5 1997 2009
dbSNP: rs587779822
rs587779822
ATM
2 1.000 0.200 11 108267204 frameshift variant -/A delins 0.700 1.000 5 1998 2016
dbSNP: rs587779826
rs587779826
ATM
5 0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 0.700 1.000 5 2013 2016
dbSNP: rs587782660
rs587782660
ATM
2 1.000 0.200 11 108244842 frameshift variant CCTC/- del 0.700 1.000 5 2006 2013
dbSNP: rs730881357
rs730881357
ATM
2 1.000 0.200 11 108272720 splice acceptor variant A/G snv 7.0E-06 0.700 1.000 5 2000 2014
dbSNP: rs730881391
rs730881391
ATM
2 1.000 0.200 11 108289759 missense variant T/C snv 4.0E-06 0.800 1.000 5 1999 2014
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: rs786202783
rs786202783
ATM
2 1.000 0.200 11 108259076 splice donor variant G/- del 0.700 1.000 5 1996 2014
dbSNP: rs786204751
rs786204751
ATM
2 1.000 0.200 11 108304693 stop gained C/T snv 0.700 1.000 5 1998 2012
dbSNP: rs876658502
rs876658502
ATM
2 1.000 0.200 11 108272537 frameshift variant -/A delins 0.700 1.000 5 1998 2018
dbSNP: rs200196781
rs200196781
ATM
2 1.000 0.200 11 108284474 splice donor variant G/A;T snv 1.6E-05 0.700 1.000 4 2000 2014
dbSNP: rs587779833
rs587779833
ATM
3 0.925 0.280 11 108279578 stop gained C/G snv 4.0E-06 7.0E-06 0.700 1.000 4 1999 2017
dbSNP: rs587782276
rs587782276
ATM
2 1.000 0.200 11 108287598 splice acceptor variant A/C;G snv 1.6E-05 0.700 1.000 4 2013 2017
dbSNP: rs749036865
rs749036865
ATM
3 0.925 0.280 11 108250834 stop gained C/A;G;T snv 8.0E-06; 4.0E-06 0.700 1.000 4 2008 2014