Source: ALL

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: 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: 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: rs730881369
rs730881369
ATM
0.925 0.280 11 108289761 stop gained C/G;T snv 4.0E-06; 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 11 1999 2015
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: rs587776551
rs587776551
ATM
1.000 0.200 11 108281168 missense variant G/A;T snv 1.6E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1998 2016
dbSNP: rs587779815
rs587779815
ATM
1.000 0.200 11 108250804 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1996 2017
dbSNP: rs587779834
rs587779834
ATM
0.925 0.320 11 108284281 frameshift variant G/- delins 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1996 2017
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: rs1137887
rs1137887
ATM
0.925 0.280 11 108256340 splice region variant G/A snv 4.4E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 1998 2016
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: rs376603775
rs376603775
ATM
0.925 0.280 11 108304801 stop gained C/A;T snv 2.0E-05 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 1998 2016
dbSNP: rs587779817
rs587779817
ATM
0.925 0.280 11 108251026 frameshift variant GA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 1996 2016
dbSNP: rs587779818
rs587779818
ATM
1.000 0.200 11 108227873 stop gained G/A snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2000 2017
dbSNP: rs587780612
rs587780612
ATM
1.000 0.200 11 108247086 frameshift variant GAAA/- delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 1999 2015
dbSNP: rs587781558
rs587781558
ATM
0.925 0.280 11 108271147 splice donor variant G/A;C;T snv 2.4E-05; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 1996 2018
dbSNP: rs587781299
rs587781299
ATM ; C11orf65
0.925 0.280 11 108327665 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1998 2016
dbSNP: rs587781730
rs587781730
ATM
1.000 0.200 11 108307929 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1996 2016
dbSNP: rs587781905
rs587781905
ATM ; C11orf65
1.000 0.200 11 108331442 splice region variant GAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1996 2011
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
1.000 0.200 11 108335957 frameshift variant ATAAG/- del 8.0E-06 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1998 2017
dbSNP: rs730881295
rs730881295
ATM ; C11orf65
1.000 0.200 11 108343372 splice region variant GTGA/- delins 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1996 2017
dbSNP: rs747727055
rs747727055
ATM
1.000 0.200 11 108245000 missense variant C/T snv 8.1E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1998 2015
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