Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748840480
rs748840480
ATM
A 0.700 CausalMutation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018
dbSNP: rs748840480
rs748840480
ATM
A 0.700 CausalMutation CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021

2017
dbSNP: rs748840480
rs748840480
ATM
A 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs748840480
rs748840480
ATM
A 0.700 CausalMutation CLINVAR Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. 23807571

2013
dbSNP: rs748840480
rs748840480
ATM
A 0.700 CausalMutation CLINVAR Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. 21665257

2011
dbSNP: rs748840480
rs748840480
ATM
A 0.700 CausalMutation CLINVAR Rapid screen for truncating ATM mutations by PTT-ELISA. 18321536

2008
dbSNP: rs748840480
rs748840480
ATM
A 0.700 CausalMutation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592

2003