Gene: ATM ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853530
rs878853530
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs878853529
rs878853529
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR

dbSNP: rs878853525
rs878853525
ATM
A 0.700 CausalMutation CLINVAR

dbSNP: rs878853522
rs878853522
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs878853518
rs878853518
ATM
TA 0.700 CausalMutation CLINVAR

dbSNP: rs878853497
rs878853497
ATM
G 0.700 CausalMutation CLINVAR

dbSNP: rs878853495
rs878853495
ATM
G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853495
rs878853495
ATM
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853490
rs878853490
ATM
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853490
rs878853490
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs876660933
rs876660933
ATM
T 0.700 GeneticVariation CLINVAR Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. 21665257

2011
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
0.700 GeneticVariation UNIPROT A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587

1998
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
0.700 GeneticVariation UNIPROT Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
0.700 GeneticVariation UNIPROT Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
0.700 GeneticVariation UNIPROT A single ataxia telangiectasia gene with a product similar to PI-3 kinase. 7792600

1995
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
0.700 GeneticVariation UNIPROT Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
0.700 GeneticVariation UNIPROT Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
0.700 GeneticVariation UNIPROT Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. 10234507

1999
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
0.700 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
0.700 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: rs876660927
rs876660927
ATM ; C11orf65
0.700 GeneticVariation UNIPROT Genotype-phenotype relationships in ataxia-telangiectasia and variants. 9497252

1998
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
0.700 GeneticVariation UNIPROT A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
0.700 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: rs876660927
rs876660927
ATM ; C11orf65
0.700 GeneticVariation UNIPROT Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia. 8789452

1996
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
0.700 GeneticVariation UNIPROT ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 9792409

1998