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: rs786203054
rs786203054
ATM
1.000 0.200 11 108271074 missense variant T/A;G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 27 1995 2017
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
0.882 0.280 11 108317374 missense variant C/A snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 25 1995 2017
dbSNP: rs121434216
rs121434216
ATM ; C11orf65
0.925 0.200 11 108345804 missense variant T/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 23 1995 2017
dbSNP: rs587782202
rs587782202
ATM ; C11orf65
1.000 0.200 11 108345870 missense variant G/A;C snv 2.0E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 23 1995 2017
dbSNP: rs121434218
rs121434218
ATM ; C11orf65
0.925 0.200 11 108333925 missense variant T/C;G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 22 1995 2017
dbSNP: rs1555114558
rs1555114558
ATM ; C11orf65
1.000 0.200 11 108317377 missense variant T/C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 22 1995 2017
dbSNP: rs587781302
rs587781302
ATM ; C11orf65
1.000 0.200 11 108315863 missense variant A/G;T snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 22 1995 2017
dbSNP: rs786202826
rs786202826
ATM ; C11orf65
0.925 0.280 11 108353805 missense variant A/G;T snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 22 1995 2017
dbSNP: rs876659365
rs876659365
ATM ; C11orf65
1.000 0.200 11 108330314 missense variant T/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 22 1995 2017
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
1.000 0.200 11 108345795 missense variant G/A;C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 22 1995 2017
dbSNP: rs777301065
rs777301065
ATM
1.000 0.200 11 108251938 missense variant T/C snv 8.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 20 1995 2017
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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 20 1995 2017
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
1.000 0.200 11 108330233 stop gained C/T snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 14 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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 13 1996 2014
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
1.000 0.200 11 108335959 stop gained A/C;G;T snv 1.6E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 13 1996 2016
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: 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: 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: 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: 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: 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: 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