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: rs753961188
rs753961188
ATM ; C11orf65
2 1.000 0.200 11 108347347 frameshift variant -/T delins 2.0E-05 0.700 1.000 1 2017 2017
dbSNP: rs587782202
rs587782202
ATM ; C11orf65
2 1.000 0.200 11 108345870 missense variant G/A;C snv 2.0E-05 0.800 1.000 23 1995 2017
dbSNP: rs746235533
rs746235533
ATM
2 1.000 0.200 11 108227691 stop gained C/G;T snv 2.0E-05 0.700 1.000 2 2002 2015
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: 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: rs371638537
rs371638537
ATM ; C11orf65
2 1.000 0.200 11 108335959 stop gained A/C;G;T snv 1.6E-05 0.700 1.000 13 1996 2016
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: 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: rs587776551
rs587776551
ATM
4 1.000 0.200 11 108281168 missense variant G/A;T snv 1.6E-05 1.4E-05 0.720 1.000 9 1996 2020
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 20 1995 2017
dbSNP: rs773570504
rs773570504
ATM ; C11orf65
2 1.000 0.200 11 108326152 frameshift variant -/A delins 1.6E-05 7.0E-06 0.700 0
dbSNP: rs772228129
rs772228129
ATM ; C11orf65
1 1.000 0.200 11 108331491 stop gained C/G;T snv 1.6E-05 0.700 0
dbSNP: rs375783941
rs375783941
ATM ; C11orf65
2 1.000 0.200 11 108315856 stop gained G/A;C;T snv 1.6E-05; 4.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs770610463
rs770610463
ATM
1 1.000 0.200 11 108268464 stop gained T/C;G snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
2 1.000 0.200 11 108365359 missense variant C/G;T snv 1.6E-05 2.1E-05 0.810 1.000 29 1995 2017
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
3 0.925 0.200 11 108365476 stop gained C/T snv 1.6E-05 7.0E-06 0.700 1.000 9 1996 2016
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
4 0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05 0.700 1.000 13 1996 2014
dbSNP: rs886039637
rs886039637
ATM
2 1.000 0.200 11 108284236 stop gained T/A;C snv 1.2E-05 0.700 0
dbSNP: rs138941496
rs138941496
ATM ; C11orf65
3 0.925 0.280 11 108332765 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 3 1996 2003
dbSNP: rs767533596
rs767533596
ATM ; C11orf65
1 1.000 0.200 11 108345758 frameshift variant CT/- delins 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1131691162
rs1131691162
ATM ; C11orf65
2 1.000 0.200 11 108327701 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs587779865
rs587779865
ATM ; C11orf65
2 1.000 0.200 11 108330362 stop gained C/T snv 1.2E-05 0.700 1.000 2 2003 2016
dbSNP: rs587778065
rs587778065
ATM
1 1.000 0.200 11 108257583 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 20 1995 2017
dbSNP: rs556778314
rs556778314
ATM ; C11orf65
2 1.000 0.200 11 108326225 splice region variant G/A;C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs747372355
rs747372355
ATM ; C11orf65
2 1.000 0.200 11 108329120 stop gained C/G;T snv 1.2E-05 0.700 0