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: 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: 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: 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: rs876659735
rs876659735
ATM ; C11orf65
1.000 0.200 11 108335063 missense variant T/G snv 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 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: rs587779834
rs587779834
ATM
0.925 0.320 11 108284281 frameshift variant G/- delins 4.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 18 1996 2017
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: rs564652222
rs564652222
ATM ; C11orf65
0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 11 2003 2014
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: 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: 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: 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: 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: 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: 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: 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: 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