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: rs775899653
rs775899653
ATM ; C11orf65
1 11 108343231 frameshift variant TCTC/-;TC delins 0.700 1.000 6 1996 2009
dbSNP: rs587782847
rs587782847
ATM ; C11orf65
1 11 108365382 frameshift variant AACTGAAAGGA/- delins 0.700 1.000 5 2003 2017
dbSNP: rs876660743
rs876660743
ATM ; C11orf65
1 11 108333941 inframe deletion TGT/- delins 0.700 1.000 5 1999 2011
dbSNP: rs587782114
rs587782114
ATM ; C11orf65
1 11 108317500 stop gained G/A snv 0.700 1.000 4 2008 2015
dbSNP: rs876658415
rs876658415
ATM ; C11orf65
1 11 108315872 missense variant A/G snv 7.0E-06 0.700 1.000 3 2001 2012
dbSNP: rs1131691154
rs1131691154
ATM
1 11 108268026 intron variant A/G;T snv 0.700 1.000 2 2012 2014
dbSNP: rs1282099124
rs1282099124
ATM ; C11orf65
1 11 108326163 stop gained C/G;T snv 0.700 1.000 2 2003 2006
dbSNP: rs529296539
rs529296539
ATM ; C11orf65
1 11 108345819 missense variant G/A;C;T snv 1.2E-04 0.700 1.000 2 1998 2009
dbSNP: rs753011366
rs753011366
ATM
1 11 108294992 frameshift variant -/CT ins 4.0E-06 0.700 1.000 2 1996 2000
dbSNP: rs771342315
rs771342315
ATM
1 11 108235700 stop gained T/A snv 4.0E-06 0.700 1.000 2 2005 2011
dbSNP: rs773516672
rs773516672
ATM ; C11orf65
1 11 108330355 stop gained G/A snv 1.6E-05 1.4E-05 0.700 1.000 2 1998 1998
dbSNP: rs876658831
rs876658831
ATM ; C11orf65
1 11 108310168 stop gained C/A;T snv 0.700 1.000 2 2000 2015
dbSNP: rs876659235
rs876659235
ATM ; C11orf65
1 11 108365340 frameshift variant T/- delins 0.700 1.000 2 2006 2007
dbSNP: rs886038217
rs886038217
ATM
1 11 108289762 missense variant GA/CG mnv 0.700 1.000 2 2003 2015
dbSNP: rs1131691254
rs1131691254
ATM ; C11orf65
1 11 108310176 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs1555066551
rs1555066551
ATM
1 11 108244108 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1555106508
rs1555106508
ATM
1 11 108302968 frameshift variant -/T delins 0.700 1.000 1 1999 1999
dbSNP: rs200976093
rs200976093
ATM
1 11 108284411 stop gained C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs587779836
rs587779836
ATM
1 11 108284316 stop gained G/A snv 0.700 1.000 1 2003 2003
dbSNP: rs587781963
rs587781963
ATM ; C11orf65
1 11 108310255 missense variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs730881385
rs730881385
ATM ; C11orf65
1 11 108335104 missense variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs747855862
rs747855862
ATM
1 11 108235669 splice acceptor variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs786202120
rs786202120
ATM ; C11orf65
1 11 108335942 frameshift variant ACTA/- delins 0.700 1.000 1 2012 2012
dbSNP: rs786202323
rs786202323
ATM ; C11orf65
1 11 108320040 frameshift variant AA/-;AAA delins 0.700 1.000 1 2006 2006
dbSNP: rs786203272
rs786203272
ATM ; C11orf65
1 11 108345797 frameshift variant -/AA delins 0.700 1.000 1 1998 1998