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: 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 11 1999 2015
dbSNP: rs587776551
rs587776551
ATM
4 1.000 0.200 11 108281168 missense variant G/A;T snv 1.6E-05 1.4E-05 0.700 1.000 10 1998 2016
dbSNP: rs587779815
rs587779815
ATM
2 1.000 0.200 11 108250804 stop gained C/T snv 8.0E-06 1.4E-05 0.700 1.000 10 1996 2017
dbSNP: rs587779834
rs587779834
ATM
3 0.925 0.320 11 108284281 frameshift variant G/- delins 4.2E-05 0.700 1.000 10 1996 2017
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 9 1998 2016
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 9 1998 2016
dbSNP: rs587779817
rs587779817
ATM
3 0.925 0.280 11 108251026 frameshift variant GA/- delins 0.700 1.000 9 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 9 2000 2017
dbSNP: rs587780612
rs587780612
ATM
2 1.000 0.200 11 108247086 frameshift variant GAAA/- delins 7.0E-06 0.700 1.000 9 1999 2015
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 9 1996 2018
dbSNP: rs587781730
rs587781730
ATM
2 1.000 0.200 11 108307929 frameshift variant A/-;AA delins 0.700 1.000 8 1996 2016
dbSNP: rs747727055
rs747727055
ATM
2 1.000 0.200 11 108245000 missense variant C/T snv 8.1E-06 1.4E-05 0.700 1.000 8 1998 2015
dbSNP: rs786201675
rs786201675
ATM
4 0.925 0.320 11 108282838 frameshift variant TTATT/- delins 0.700 1.000 8 1996 2017
dbSNP: rs587779844
rs587779844
ATM
2 1.000 0.200 11 108301698 missense variant C/G;T snv 1.6E-05 7.0E-06 0.700 1.000 7 1998 2017
dbSNP: rs587781978
rs587781978
ATM
2 1.000 0.200 11 108244913 frameshift variant T/- delins 0.700 1.000 7 1999 2013
dbSNP: rs772821016
rs772821016
ATM
4 0.882 0.320 11 108244873 stop gained C/T snv 4.0E-06 0.700 1.000 7 1999 2013
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 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 5 1996 2013
dbSNP: rs587776549
rs587776549
ATM
2 1.000 0.200 11 108272813 frameshift variant ATC/TGAT delins 0.700 1.000 5 1998 2016
dbSNP: rs587779822
rs587779822
ATM
2 1.000 0.200 11 108267204 frameshift variant -/A delins 0.700 1.000 5 1998 2012
dbSNP: rs587781831
rs587781831
ATM
2 1.000 0.200 11 108235719 frameshift variant A/- del 4.0E-06 0.700 1.000 5 1999 2014
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 5 1989 2011
dbSNP: rs730881389
rs730881389
ATM
2 1.000 0.200 11 108284328 missense variant T/C snv 7.0E-06 0.700 1.000 5 1999 2011
dbSNP: rs772926890
rs772926890
ATM
2 1.000 0.200 11 108251073 splice donor variant G/T snv 8.0E-06 0.700 1.000 5 1998 2009
dbSNP: rs775036118
rs775036118
ATM
2 1.000 0.200 11 108307914 stop gained C/T snv 8.0E-06 0.700 1.000 5 2006 2014