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: rs564652222
rs564652222
ATM ; C11orf65
5 0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05 0.700 1.000 10 1999 2013
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: 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: rs587781299
rs587781299
ATM ; C11orf65
3 0.925 0.280 11 108327665 frameshift variant -/A delins 0.700 1.000 8 1998 2016
dbSNP: rs587781730
rs587781730
ATM
2 1.000 0.200 11 108307929 frameshift variant A/-;AA delins 0.700 1.000 8 1996 2016
dbSNP: rs587781905
rs587781905
ATM ; C11orf65
2 1.000 0.200 11 108331442 splice region variant GAGA/- delins 0.700 1.000 8 1996 2011
dbSNP: rs730881295
rs730881295
ATM ; C11orf65
2 1.000 0.200 11 108343372 splice region variant GTGA/- delins 2.1E-05 0.700 1.000 8 1996 2017
dbSNP: rs786201675
rs786201675
ATM
4 0.925 0.320 11 108282838 frameshift variant TTATT/- delins 0.700 1.000 8 1996 2017
dbSNP: rs786202800
rs786202800
ATM ; C11orf65
2 1.000 0.200 11 108343338 frameshift variant TTTCAGTGCC/- delins 0.700 1.000 8 1998 2017
dbSNP: rs267606668
rs267606668
ATM ; C11orf65
2 1.000 0.200 11 108332848 missense variant TG/GC mnv 0.700 1.000 7 1998 2013
dbSNP: rs587781978
rs587781978
ATM
2 1.000 0.200 11 108244913 frameshift variant T/- delins 0.700 1.000 7 1999 2013
dbSNP: rs587781363
rs587781363
ATM ; C11orf65
2 1.000 0.200 11 108345797 stop gained C/T snv 0.700 1.000 6 1997 2015
dbSNP: rs775899653
rs775899653
ATM ; C11orf65
1 11 108343231 frameshift variant TCTC/-;TC delins 0.700 1.000 6 1996 2009
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: rs587782847
rs587782847
ATM ; C11orf65
1 11 108365382 frameshift variant AACTGAAAGGA/- delins 0.700 1.000 5 2003 2017
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: rs786203054
rs786203054
ATM
2 1.000 0.200 11 108271074 missense variant T/A;G snv 0.700 1.000 5 1999 2017
dbSNP: rs876660743
rs876660743
ATM ; C11orf65
1 11 108333941 inframe deletion TGT/- delins 0.700 1.000 5 1999 2011
dbSNP: rs587781449
rs587781449
ATM
2 1.000 0.200 11 108235716 frameshift variant T/- del 0.700 1.000 4 1999 2017
dbSNP: rs587781653
rs587781653
ATM
3 0.925 0.280 11 108289737 frameshift variant G/- delins 0.700 1.000 4 1999 2016
dbSNP: rs587781658
rs587781658
ATM
2 1.000 0.200 11 108257512 frameshift variant CT/- delins 0.700 1.000 4 1996 2016
dbSNP: rs587782114
rs587782114
ATM ; C11orf65
1 11 108317500 stop gained G/A snv 0.700 1.000 4 2008 2015