Gene: ATM ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881391
rs730881391
ATM
C 0.800 GeneticVariation CLINVAR Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. 22529920

2012
dbSNP: rs730881391
rs730881391
ATM
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs730881391
rs730881391
ATM
C 0.800 GeneticVariation CLINVAR Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. 10234507

1999
dbSNP: rs730881391
rs730881391
ATM
C 0.800 GeneticVariation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs730881391
rs730881391
ATM
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
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 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 Newborn screening for SCID identifies patients with ataxia telangiectasia. 23264026

2013
dbSNP: rs747727055
rs747727055
ATM
T 0.800 GeneticVariation CLINVAR Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. 10873394

2000
dbSNP: rs747727055
rs747727055
ATM
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs786203054
rs786203054
ATM
G 0.800 GeneticVariation CLINVAR Low levels of ATM in breast cancer patients with clinical radiosensitivity. 20678261

2010
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. 9150358

1997
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587

1998
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia. 8789452

1996
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. 10234507

1999
dbSNP: rs786203054
rs786203054
ATM
G 0.800 GeneticVariation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559

2003
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Predominance of null mutations in ataxia-telangiectasia. 8845835

1996
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 7792600

1995
dbSNP: rs786203054
rs786203054
ATM
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: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014