Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780619951
rs780619951
ATM
T 0.700 CausalMutation CLINVAR Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. 24549055

2014
dbSNP: rs780619951
rs780619951
ATM
T 0.700 CausalMutation CLINVAR Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. 21665257

2011
dbSNP: rs780619951
rs780619951
ATM
T 0.700 CausalMutation CLINVAR Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. 19691550

2009
dbSNP: rs780619951
rs780619951
ATM
T 0.700 CausalMutation CLINVAR ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions. 16941484

2006
dbSNP: rs780619951
rs780619951
ATM
T 0.700 CausalMutation CLINVAR ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype. 15843990

2005
dbSNP: rs780619951
rs780619951
ATM
T 0.700 CausalMutation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592

2003
dbSNP: rs780619951
rs780619951
ATM
T 0.700 CausalMutation CLINVAR Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia. 9043869

1996