Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Rare variants in the ATM gene and risk of breast cancer. 21787400

2011
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. 21792198

2011
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559

2003
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype. 11382771

2001
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
C 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: rs587776547
rs587776547
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. 9150358

1997
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835

1996
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR ATM mutations in cancer families. 8797579

1996
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR A gene transcribed from the bidirectional ATM promoter coding for a serine rich protein: amino acid sequence, structure and expression studies. 8923007

1996