Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Ataxia telangiectasia: more variation at clinical and cellular levels. 25040471

2015
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Ataxia-telangiectasia with female fertility. 25914063

2015
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.700 GeneticVariation 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: rs397514577
rs397514577
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia. 23143971

2013
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. 22345219

2012
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999