Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781722
rs587781722
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Myoclonus in ataxia-telangiectasia. 25793145

2015
dbSNP: rs587781722
rs587781722
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592

2003
dbSNP: rs587781722
rs587781722
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia. 9682216

1998
dbSNP: rs587781722
rs587781722
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998