Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747727055
rs747727055
ATM
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs747727055
rs747727055
ATM
T 0.800 GeneticVariation CLINVAR Newborn screening for SCID identifies patients with ataxia telangiectasia. 23264026

2013
dbSNP: rs747727055
rs747727055
ATM
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs747727055
rs747727055
ATM
T 0.800 GeneticVariation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs747727055
rs747727055
ATM
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
dbSNP: rs747727055
rs747727055
ATM
T 0.800 GeneticVariation CLINVAR Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. 10873394

2000