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: rs147187700
rs147187700
ATM ; C11orf65
0.925 0.120 11 108310218 missense variant G/C snv 1.3E-04 1.8E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
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: rs201963507
rs201963507
ATM ; C11orf65
1.000 0.200 11 108310287 stop gained A/G;T snv 1.0E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2008 2008
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: 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: 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: 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
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: 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: rs587776547
rs587776547
ATM ; C11orf65
0.882 0.320 11 108331885 inframe deletion TAGAATTTC/- delins 2.8E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 1996 2011
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: 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: rs753961188
rs753961188
ATM ; C11orf65
1.000 0.200 11 108347347 frameshift variant -/T delins 2.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587782202
rs587782202
ATM ; C11orf65
1.000 0.200 11 108345870 missense variant G/A;C snv 2.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
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: rs755009196
rs755009196
ATM ; C11orf65
0.925 0.160 11 108332024 missense variant C/G snv 1.6E-05 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs773570504
rs773570504
ATM ; C11orf65
1.000 0.200 11 108326152 frameshift variant -/A delins 1.6E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2002 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: rs375783941
rs375783941
ATM ; C11orf65
1.000 0.200 11 108315856 stop gained G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
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: 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: 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: 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: rs1131691162
rs1131691162
ATM ; C11orf65
1.000 0.200 11 108327701 stop gained G/A snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0