Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR Ataxia telangiectasia associated with nodular regenerative hyperplasia. 27671921

2016
dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016
dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR Cognitive phenotype in ataxia-telangiectasia. 25037873

2014
dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. 21665257

2011
dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. 19691550

2009
dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592

2003
dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559

2003
dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999
dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs1137887
rs1137887
ATM
A 0.700 CausalMutation CLINVAR 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