Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775036118
rs775036118
ATM
T 0.700 CausalMutation CLINVAR A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity. 25077176

2014
dbSNP: rs775036118
rs775036118
ATM
T 0.700 CausalMutation CLINVAR p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes. 23454770

2013
dbSNP: rs775036118
rs775036118
ATM
T 0.700 CausalMutation CLINVAR Molecular defects in Moroccan patients with ataxia-telangiectasia. 23322442

2013
dbSNP: rs775036118
rs775036118
ATM
T 0.700 CausalMutation CLINVAR A precocious cerebellar ataxia and frequent Fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome. 25374739

2013
dbSNP: rs775036118
rs775036118
ATM
T 0.700 CausalMutation CLINVAR DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations. 17124347

2006