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: rs28904921
rs28904921
ATM ; C11orf65
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 1996 2016
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 19 1998 2018
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
0.925 0.280 11 108331877 splice acceptor variant A/C;G snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 11 1998 2016
dbSNP: rs587782652
rs587782652
ATM ; C11orf65
0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 11 2002 2016
dbSNP: rs564652222
rs564652222
ATM ; C11orf65
0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1999 2013
dbSNP: rs587781894
rs587781894
ATM ; C11orf65
0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1999 2013
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
1.000 0.200 11 108335959 stop gained A/C;G;T snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 1996 2017
dbSNP: rs770641163
rs770641163
ATM ; C11orf65
0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1996 2017
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
0.925 0.280 11 108315911 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1999 2016
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1996 2016
dbSNP: rs377349459
rs377349459
ATM ; C11orf65
0.925 0.280 11 108332886 stop gained G/A snv 4.0E-06 5.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1998 2017
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1998 2017
dbSNP: rs587782719
rs587782719
ATM ; C11orf65
0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2006 2013
dbSNP: rs769142993
rs769142993
ATM ; C11orf65
0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2000 2012
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1996 2017
dbSNP: rs864622185
rs864622185
ATM ; C11orf65
1.000 0.200 11 108332759 splice region variant T/G snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1996 2015
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
1.000 0.200 11 108330233 stop gained C/T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 1996 2016
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
0.882 0.280 11 108317374 missense variant C/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 1999 2015
dbSNP: rs587781363
rs587781363
ATM ; C11orf65
1.000 0.200 11 108345797 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 1997 2015
dbSNP: rs748634900
rs748634900
ATM ; C11orf65
1.000 0.200 11 108343246 missense variant G/A snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 1999 2015
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
0.925 0.200 11 108365476 stop gained C/T snv 1.6E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1996 2016
dbSNP: rs532480170
rs532480170
ATM ; C11orf65
0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1996 2011
dbSNP: rs138941496
rs138941496
ATM ; C11orf65
0.925 0.280 11 108332765 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1996 2004
dbSNP: rs587778080
rs587778080
ATM ; C11orf65
1.000 0.200 11 108345869 stop gained C/A;G;T snv 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1999 2016
dbSNP: rs587781722
rs587781722
ATM ; C11orf65
0.925 0.280 11 108310305 stop gained C/T snv 3.2E-05 2.0E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1998 2015