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: rs587781511
rs587781511
ATM
1 1.000 0.200 11 108247029 missense variant A/G snv 8.0E-06 7.0E-06 0.800 1.000 23 1995 2017
dbSNP: rs1555114558
rs1555114558
ATM ; C11orf65
1 1.000 0.200 11 108317377 missense variant T/C snv 0.700 1.000 22 1995 2017
dbSNP: rs876659735
rs876659735
ATM ; C11orf65
1 1.000 0.200 11 108335063 missense variant T/G snv 7.0E-06 0.700 1.000 22 1995 2017
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
1 1.000 0.200 11 108345795 missense variant G/A;C snv 0.700 1.000 22 1995 2017
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: rs777301065
rs777301065
ATM
1 1.000 0.200 11 108251938 missense variant T/C snv 8.0E-06 0.700 1.000 20 1995 2017
dbSNP: rs1555151928
rs1555151928
ATM ; C11orf65
1 1.000 0.200 11 108365410 frameshift variant G/- del 0.700 1.000 9 1996 2016
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: rs864622416
rs864622416
ATM ; C11orf65
1 1.000 0.200 11 108327678 frameshift variant GT/- delins 0.700 1.000 4 1996 2014
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
dbSNP: rs1478081526
rs1478081526
ATM
1 1.000 0.200 11 108256281 stop gained -/A delins 4.0E-06 0.700 1.000 3 2003 2019
dbSNP: rs1555067355
rs1555067355
ATM
1 1.000 0.200 11 108245028 splice donor variant T/AA delins 0.700 1.000 3 2000 2014
dbSNP: rs1555152058
rs1555152058
ATM ; C11orf65
1 1.000 0.200 11 108365480 frameshift variant TT/-;T delins 0.700 1.000 3 2000 2009
dbSNP: rs864622251
rs864622251
ATM ; C11orf65
1 1.000 0.200 11 108316030 stop gained G/A;T snv 4.0E-06 0.700 1.000 3 2009 2012
dbSNP: rs879254093
rs879254093
ATM
1 1.000 0.200 11 108250928 stop gained G/A snv 7.0E-06 0.700 1.000 3 2006 2011
dbSNP: rs914092098
rs914092098
ATM
1 1.000 0.200 11 108259076 splice donor variant G/A snv 0.700 1.000 3 1999 2014
dbSNP: rs1057517302
rs1057517302
ATM ; C11orf65
1 1.000 0.200 11 108319953 splice acceptor variant G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs1057517358
rs1057517358
ATM
1 1.000 0.200 11 108252815 splice acceptor variant A/G snv 0.700 1.000 2 2013 2014
dbSNP: rs1060501627
rs1060501627
ATM
1 1.000 0.200 11 108295056 stop gained C/G;T snv 0.700 1.000 2 2000 2009
dbSNP: rs1060501630
rs1060501630
ATM ; C11orf65
1 1.000 0.200 11 108343274 frameshift variant TC/A delins 0.700 1.000 2 2000 2009
dbSNP: rs1060501688
rs1060501688
ATM
1 1.000 0.200 11 108307960 missense variant T/G snv 0.700 1.000 2 2010 2014
dbSNP: rs1060501690
rs1060501690
ATM
1 1.000 0.200 11 108244119 splice donor variant G/A snv 4.0E-06 0.700 1.000 2 2013 2014
dbSNP: rs1060501695
rs1060501695
ATM ; C11orf65
1 1.000 0.200 11 108335098 stop gained C/A;G;T snv 0.700 1.000 2 1996 2004
dbSNP: rs1060504292
rs1060504292
ATM ; C11orf65
1 1.000 0.200 11 108343326 stop gained C/A;T snv 4.0E-06 0.700 1.000 2 1998 2012