Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881369
rs730881369
ATM
T 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective. 26439923

2015
dbSNP: rs730881369
rs730881369
ATM
T 0.700 CausalMutation CLINVAR The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. 25122203

2014
dbSNP: rs730881369
rs730881369
ATM
T 0.700 CausalMutation CLINVAR Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer. 22527104

2012
dbSNP: rs730881369
rs730881369
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: rs730881369
rs730881369
ATM
T 0.700 CausalMutation CLINVAR Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. 19691550

2009
dbSNP: rs730881369
rs730881369
ATM
T 0.700 CausalMutation CLINVAR Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20. 17910737

2008
dbSNP: rs730881369
rs730881369
ATM
T 0.700 CausalMutation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559

2003
dbSNP: rs730881369
rs730881369
ATM
T 0.700 CausalMutation CLINVAR New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. 10425038

1999