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: 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: rs587781299
rs587781299
ATM ; C11orf65
3 0.925 0.280 11 108327665 frameshift variant -/A delins 0.700 1.000 6 1998 2016
dbSNP: rs587781658
rs587781658
ATM
2 1.000 0.200 11 108257512 frameshift variant CT/- delins 0.700 1.000 6 1996 2016
dbSNP: rs786204543
rs786204543
ATM
2 1.000 0.200 11 108244090 frameshift variant T/- delins 0.700 1.000 6 1996 2016
dbSNP: rs587779822
rs587779822
ATM
2 1.000 0.200 11 108267204 frameshift variant -/A delins 0.700 1.000 5 1998 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: 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: rs876660134
rs876660134
ATM ; C11orf65
2 1.000 0.200 11 108312467 frameshift variant TAAAG/- delins 0.700 1.000 5 1996 2013
dbSNP: rs876660235
rs876660235
ATM ; C11orf65
2 1.000 0.200 11 108365356 frameshift variant -/A delins 0.700 1.000 5 2003 2012
dbSNP: rs730881295
rs730881295
ATM ; C11orf65
2 1.000 0.200 11 108343372 splice region variant GTGA/- delins 2.1E-05 0.700 1.000 4 1996 2003
dbSNP: rs758588019
rs758588019
ATM ; C11orf65
1 1.000 0.200 11 108335056 stop gained A/T snv 0.700 1.000 4 1998 2015
dbSNP: rs759965045
rs759965045
ATM ; C11orf65
2 1.000 0.200 11 108331951 frameshift variant GA/- delins 7.0E-06 0.700 1.000 4 1953 2003
dbSNP: rs768362387
rs768362387
ATM
5 0.851 0.360 11 108253846 stop gained C/A snv 0.700 1.000 4 2000 2015
dbSNP: rs786202148
rs786202148
ATM
2 1.000 0.200 11 108271061 splice acceptor variant TAGT/GATACTA delins 0.700 1.000 4 2003 2014
dbSNP: rs786203030
rs786203030
ATM ; C11orf65
2 1.000 0.200 11 108354855 frameshift variant CT/- delins 0.700 1.000 4 1996 2016
dbSNP: rs864622416
rs864622416
ATM ; C11orf65
1 1.000 0.200 11 108327678 frameshift variant GT/- delins 0.700 1.000 4 1996 2014
dbSNP: rs876659003
rs876659003
ATM
2 1.000 0.200 11 108244876 stop gained TG/- delins 0.700 1.000 4 1996 2013
dbSNP: rs876659450
rs876659450
ATM
2 1.000 0.200 11 108249045 stop gained GG/- delins 0.700 1.000 4 1999 2014
dbSNP: rs876659872
rs876659872
ATM ; C11orf65
2 1.000 0.200 11 108343240 stop gained C/T snv 0.700 1.000 4 2008 2016
dbSNP: rs1057517120
rs1057517120
ATM ; C11orf65
1 1.000 0.200 11 108317522 splice donor variant G/A snv 7.3E-06 0.700 1.000 3 1999 2014
dbSNP: rs1057517129
rs1057517129
ATM
1 1.000 0.200 11 108282733 frameshift variant TT/-;T delins 0.700 1.000 3 1999 2000