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: rs139770721
rs139770721
ATM ; C11orf65
0.925 0.280 11 108315911 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 12 1999 2016
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
0.882 0.320 11 108331885 inframe deletion TAGAATTTC/- delins 2.8E-05 1.4E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 12 1995 2012
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
1.000 0.200 11 108365415 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 12 1996 2016
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
1.000 0.200 11 108335957 frameshift variant ATAAG/- del 8.0E-06 2.8E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 12 1998 2016
dbSNP: rs730881386
rs730881386
ATM ; C11orf65
1.000 0.200 11 108365324 splice acceptor variant G/A;C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 12 1996 2017
dbSNP: rs1450394308
rs1450394308
ATM ; C11orf65
1.000 0.200 11 108332851 frameshift variant TATTA/- delins 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 11 1996 2015
dbSNP: rs587779817
rs587779817
ATM
0.925 0.280 11 108251026 frameshift variant GA/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 11 1996 2016
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
0.925 0.280 11 108331877 splice acceptor variant A/C;G snv 8.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 11 1998 2016
dbSNP: rs587782719
rs587782719
ATM ; C11orf65
0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 11 2006 2017
dbSNP: rs267606668
rs267606668
ATM ; C11orf65
1.000 0.200 11 108332848 missense variant TG/GC mnv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 10 1998 2016
dbSNP: rs587781347
rs587781347
ATM
1.000 0.200 11 108250867 frameshift variant AA/- del 4.0E-05 3.5E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 10 1998 2015
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 10 1996 2015
dbSNP: rs786203606
rs786203606
ATM
1.000 0.200 11 108227626 start lost T/C snv 4.0E-06 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 10 1996 2012
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
0.925 0.200 11 108365476 stop gained C/T snv 1.6E-05 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 9 1996 2016
dbSNP: rs1555151928
rs1555151928
ATM ; C11orf65
1.000 0.200 11 108365410 frameshift variant G/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 9 1996 2016
dbSNP: rs587779846
rs587779846
ATM
1.000 0.200 11 108301760 frameshift variant C/- del 8.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 9 1999 2016
dbSNP: rs587781831
rs587781831
ATM
1.000 0.200 11 108235719 frameshift variant A/- del 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 9 2004 2017
dbSNP: rs587781927
rs587781927
ATM
1.000 0.200 11 108293479 splice donor variant T/A;C snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 9 1989 2014
dbSNP: rs587781978
rs587781978
ATM
1.000 0.200 11 108244913 frameshift variant T/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 9 1999 2014
dbSNP: rs781404312
rs781404312
ATM
1.000 0.200 11 108227627 start lost G/A snv 4.0E-06 1.4E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 9 1996 2012
dbSNP: rs876660022
rs876660022
ATM ; C11orf65
1.000 0.200 11 108365336 frameshift variant AG/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 9 1996 2016
dbSNP: rs730881369
rs730881369
ATM
0.925 0.280 11 108289761 stop gained C/G;T snv 4.0E-06; 1.6E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 8 1999 2015
dbSNP: rs876660382
rs876660382
ATM ; C11orf65
1.000 0.200 11 108365356 stop gained G/A;T snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 8 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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 7 1998 2016
dbSNP: rs55861249
rs55861249
ATM
0.925 0.280 11 108227806 stop gained C/A;T snv 7.2E-05; 2.0E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 7 1996 2016