Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587782114
rs587782114
ATM ; C11orf65
11 108317500 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2008 2015
dbSNP: rs778031266
rs778031266
ATM ; C11orf65
0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1998 2016
dbSNP: rs202206540
rs202206540
ATM ; C11orf65
1.000 0.200 11 108316069 missense variant G/A snv 6.0E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1999 2015
dbSNP: rs587779861
rs587779861
ATM ; C11orf65
1.000 0.200 11 108329112 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2008 2015
dbSNP: rs730881386
rs730881386
ATM ; C11orf65
1.000 0.200 11 108365324 splice acceptor variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1999 2017
dbSNP: rs747372355
rs747372355
ATM ; C11orf65
1.000 0.200 11 108329120 stop gained C/G;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1998 2006
dbSNP: rs780905851
rs780905851
ATM ; C11orf65
1.000 0.200 11 108345889 missense variant T/A;C;G snv 8.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1999 2015
dbSNP: rs863224440
rs863224440
ATM ; C11orf65
1.000 0.200 11 108332899 missense variant A/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1996 2007
dbSNP: rs876658415
rs876658415
ATM ; C11orf65
11 108315872 missense variant A/G snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2001 2012
dbSNP: rs876659365
rs876659365
ATM ; C11orf65
1.000 0.200 11 108330314 missense variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1999 2013
dbSNP: rs876659454
rs876659454
ATM ; C11orf65
1.000 0.200 11 108315898 stop gained C/A;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2003 2015
dbSNP: rs1282099124
rs1282099124
ATM ; C11orf65
11 108326163 stop gained C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2003 2006
dbSNP: rs1555126163
rs1555126163
ATM ; C11orf65
1.000 0.200 11 108333885 splice acceptor variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2008 2015
dbSNP: rs529296539
rs529296539
ATM ; C11orf65
11 108345819 missense variant G/A;C;T snv 1.2E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1998 2009
dbSNP: rs587779856
rs587779856
ATM ; C11orf65
1.000 0.200 11 108321421 splice donor variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2005 2015
dbSNP: rs587779865
rs587779865
ATM ; C11orf65
1.000 0.200 11 108330362 stop gained C/T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2003 2016
dbSNP: rs587780639
rs587780639
ATM ; C11orf65
1.000 0.200 11 108332037 missense variant G/A;C;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1998 2015
dbSNP: rs587781672
rs587781672
ATM ; C11orf65
1.000 0.200 11 108329027 stop gained G/A;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2008 2015
dbSNP: rs587781698
rs587781698
ATM ; C11orf65
1.000 0.200 11 108365335 stop gained C/G;T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1998 2000
dbSNP: rs587781967
rs587781967
ATM ; C11orf65
1.000 0.200 11 108335878 stop gained C/G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2003 2015
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
1.000 0.200 11 108365359 missense variant C/G;T snv 1.6E-05 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2015 2016
dbSNP: rs756899044
rs756899044
ATM ; C11orf65
1.000 0.200 11 108353831 missense variant G/C;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2011 2012
dbSNP: rs773516672
rs773516672
ATM ; C11orf65
11 108330355 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1998 1998
dbSNP: rs786202826
rs786202826
ATM ; C11orf65
0.925 0.280 11 108353805 missense variant A/G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1996 1997
dbSNP: rs786203404
rs786203404
ATM ; C11orf65
1.000 0.200 11 108312463 stop gained G/A;T snv 4.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1999 2015