Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781730
rs587781730
ATM
TA 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587781730
rs587781730
ATM
TA 0.700 CausalMutation CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627

2015
dbSNP: rs587781730
rs587781730
ATM
TA 0.700 CausalMutation CLINVAR Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. 26270727

2015
dbSNP: rs587781730
rs587781730
ATM
TA 0.700 CausalMutation CLINVAR Rapid screen for truncating ATM mutations by PTT-ELISA. 18321536

2008
dbSNP: rs587781730
rs587781730
ATM
TA 0.700 CausalMutation CLINVAR ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 16266405

2005
dbSNP: rs587781730
rs587781730
ATM
TA 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs587781730
rs587781730
ATM
TA 0.700 CausalMutation CLINVAR Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. 10873394

2000
dbSNP: rs587781730
rs587781730
ATM
TA 0.700 CausalMutation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835

1996