Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045030
rs797045030
ATM ; C11orf65
TA 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs797045030
rs797045030
ATM ; C11orf65
TA 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs797045030
rs797045030
ATM ; C11orf65
TA 0.700 CausalMutation CLINVAR Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. 23807571

2013