Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782124
rs587782124
ATM
G 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs587782124
rs587782124
ATM
G 0.700 CausalMutation CLINVAR Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity. 23566627

2013
dbSNP: rs587782124
rs587782124
ATM
G 0.700 CausalMutation CLINVAR Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival. 24090759

2013
dbSNP: rs587782124
rs587782124
ATM
G 0.700 CausalMutation CLINVAR Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. 23807571

2013
dbSNP: rs587782124
rs587782124
ATM
G 0.700 CausalMutation CLINVAR ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 16266405

2005
dbSNP: rs587782124
rs587782124
ATM
G 0.700 CausalMutation CLINVAR ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. 10677309

2000
dbSNP: rs587782124
rs587782124
ATM
G 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