Disease: Ataxia Telangiectasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779852
rs587779852
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.720 CausalMutation CLINVAR MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. 24451234 2014
dbSNP: rs587779852
rs587779852
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.720 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872 2014
dbSNP: rs587779852
rs587779852
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.720 GeneticVariation BEFREE We now report that a nonsense mutation, p.E1978X (c.5932G>T), is both a classical A-T mutation and a breast cancer susceptibility allele in Eastern European populations. 18807267 2009
dbSNP: rs587779852
rs587779852
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.720 CausalMutation CLINVAR We now report that a nonsense mutation, p.E1978X (c.5932G>T), is both a classical A-T mutation and a breast cancer susceptibility allele in Eastern European populations. 18807267 2009
dbSNP: rs587779852
rs587779852
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.720 CausalMutation CLINVAR Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. 19691550 2009
dbSNP: rs587779852
rs587779852
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.720 CausalMutation CLINVAR Contribution of mutations in ATM to breast cancer development in the Czech population. 18497957 2008
dbSNP: rs587779852
rs587779852
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.720 CausalMutation CLINVAR DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations. 17124347 2006
dbSNP: rs587779852
rs587779852
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		0.720 GeneticVariation BEFREE The Mennonite mutation, 5932 G>T, is common in Russian A-T families, and the STR haplovariants are the same in both Poland and Russia. 16266405 2005
dbSNP: rs587779852
rs587779852
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.720 CausalMutation CLINVAR ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia. 15880721 2005
dbSNP: rs587779852
rs587779852
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.720 CausalMutation CLINVAR The Mennonite mutation, 5932 G>T, is common in Russian A-T families, and the STR haplovariants are the same in both Poland and Russia. 16266405 2005
dbSNP: rs587779852
rs587779852
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0004135
Disease:
Ataxia Telangiectasia 		T 0.720 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348 1999