Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376603775
rs376603775
ATM
T 0.700 CausalMutation CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419

2016
dbSNP: rs376603775
rs376603775
ATM
T 0.700 CausalMutation CLINVAR Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran. 27980538

2016
dbSNP: rs376603775
rs376603775
ATM
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs376603775
rs376603775
ATM
T 0.700 CausalMutation CLINVAR Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95. 22649200

2012
dbSNP: rs376603775
rs376603775
ATM
T 0.700 CausalMutation CLINVAR Rare variants in the ATM gene and risk of breast cancer. 21787400

2011
dbSNP: rs376603775
rs376603775
ATM
T 0.700 CausalMutation CLINVAR Discovering moderate-risk breast cancer susceptibility genes. 20346647

2010
dbSNP: rs376603775
rs376603775
ATM
T 0.700 CausalMutation CLINVAR Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 19781682

2009
dbSNP: rs376603775
rs376603775
ATM
T 0.700 CausalMutation CLINVAR Nonaminoglycoside compounds induce readthrough of nonsense mutations. 19770270

2009
dbSNP: rs376603775
rs376603775
ATM
T 0.700 CausalMutation CLINVAR Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel. 9450906

1998