Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Novel ATM mutations with ataxia-telangiectasia. 26628246

2016
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR ATM activation by oxidative stress. 20966255

2010
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. 19691550

2009
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia. 18560558

2008
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. 9450874

1998
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. 9463314

1998
dbSNP: rs121434219
rs121434219
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918

1996