Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764389018
rs764389018
ATM
T 0.700 CausalMutation CLINVAR Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. 22213089

2012
dbSNP: rs764389018
rs764389018
ATM
T 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: rs764389018
rs764389018
ATM
T 0.700 GeneticVariation CLINVAR ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 16266405

2005
dbSNP: rs764389018
rs764389018
ATM
T 0.700 GeneticVariation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592

2003
dbSNP: rs764389018
rs764389018
ATM
T 0.700 CausalMutation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592

2003
dbSNP: rs764389018
rs764389018
ATM
T 0.700 GeneticVariation CLINVAR New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. 10425038

1999
dbSNP: rs764389018
rs764389018
ATM
T 0.700 CausalMutation CLINVAR New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. 10425038

1999