Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia. 9043869

1996
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. 9150358

1997
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 CausalMutation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia. 8789452

1996
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Predominance of null mutations in ataxia-telangiectasia. 8845835

1996
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 GeneticVariation CLINVAR Neuropathology in classical and variant ataxia-telangiectasia. 22017321

2012
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 GeneticVariation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 7792600

1995
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 GeneticVariation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 CausalMutation CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT 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: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 CausalMutation CLINVAR Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. 10873394

2000
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876

1998
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. 8589678

1995
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 CausalMutation CLINVAR Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. 18634022

2009
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 GeneticVariation CLINVAR Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. 10873394

2000
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 CausalMutation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559

2003
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 GeneticVariation CLINVAR Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. 18634022

2009