Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781978
rs587781978
ATM
C 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: rs587781978
rs587781978
ATM
C 0.700 CausalMutation CLINVAR Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. 22213089

2012
dbSNP: rs587781978
rs587781978
ATM
C 0.700 CausalMutation CLINVAR ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. 16832357

2006
dbSNP: rs587781978
rs587781978
ATM
C 0.700 CausalMutation CLINVAR Cancer risks and mortality in heterozygous ATM mutation carriers. 15928302

2005
dbSNP: rs587781978
rs587781978
ATM
C 0.700 CausalMutation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559

2003
dbSNP: rs587781978
rs587781978
ATM
C 0.700 CausalMutation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592

2003
dbSNP: rs587781978
rs587781978
ATM
C 0.700 CausalMutation CLINVAR Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. 12673797

2003
dbSNP: rs587781978
rs587781978
ATM
C 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs587781978
rs587781978
ATM
C 0.700 CausalMutation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999