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: rs28904921
rs28904921
ATM ; C11orf65
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.800 1.000 19 1996 2016
dbSNP: rs587782652
rs587782652
ATM ; C11orf65
5 0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 0.710 1.000 11 1989 2019
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: rs768362387
rs768362387
ATM
5 0.851 0.360 11 108253846 stop gained C/A snv 0.700 1.000 4 2000 2015
dbSNP: rs758081262
rs758081262
ATM
4 0.851 0.360 11 108267258 stop gained C/T snv 1.2E-05 0.700 1.000 3 2012 2015
dbSNP: rs587781823
rs587781823
ATM
5 0.851 0.280 11 108284370 frameshift variant -/T delins 0.700 1.000 2 2009 2011
dbSNP: rs769142993
rs769142993
ATM ; C11orf65
7 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
4 0.882 0.280 11 108317374 missense variant C/A snv 4.0E-06 0.800 1.000 25 1995 2017
dbSNP: rs587781894
rs587781894
ATM ; C11orf65
4 0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 0.700 1.000 14 1998 2013
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: rs587776547
rs587776547
ATM ; C11orf65
4 0.882 0.320 11 108331885 inframe deletion TAGAATTTC/- delins 2.8E-05 1.4E-05 0.700 1.000 12 1995 2012
dbSNP: rs587782719
rs587782719
ATM ; C11orf65
4 0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 11 2006 2017
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
4 0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05 0.720 1.000 9 1999 2014
dbSNP: rs770641163
rs770641163
ATM ; C11orf65
4 0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.710 1.000 9 2003 2019
dbSNP: rs532480170
rs532480170
ATM ; C11orf65
5 0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06 0.700 1.000 5 1996 2016
dbSNP: rs778031266
rs778031266
ATM ; C11orf65
4 0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 0.700 1.000 4 1998 2016
dbSNP: rs772821016
rs772821016
ATM
4 0.882 0.320 11 108244873 stop gained C/T snv 4.0E-06 0.700 1.000 3 1999 2012
dbSNP: rs730881333
rs730881333
ATM
3 0.882 0.280 11 108243994 stop gained C/A;T snv 4.1E-06; 8.1E-06 0.700 1.000 2 2006 2016
dbSNP: rs1555119834
rs1555119834
ATM ; C11orf65
4 0.882 0.280 11 108326116 frameshift variant -/T delins 0.700 1.000 1 1999 1999
dbSNP: rs376676328
rs376676328
ATM ; C11orf65
5 0.882 0.280 11 108353828 missense variant A/G snv 2.2E-04 1.8E-04 0.010 1.000 1 2007 2007
dbSNP: rs1057518965
rs1057518965
ATM
5 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0
dbSNP: rs121434216
rs121434216
ATM ; C11orf65
2 0.925 0.200 11 108345804 missense variant T/G snv 0.800 1.000 23 1995 2017
dbSNP: rs121434218
rs121434218
ATM ; C11orf65
2 0.925 0.200 11 108333925 missense variant T/C;G snv 0.700 1.000 22 1995 2017
dbSNP: rs786202826
rs786202826
ATM ; C11orf65
3 0.925 0.280 11 108353805 missense variant A/G;T snv 4.0E-06 0.800 1.000 22 1995 2017
dbSNP: rs587779834
rs587779834
ATM
3 0.925 0.320 11 108284281 frameshift variant G/- delins 4.2E-05 0.700 1.000 18 1996 2017