Gene: EEF1A2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555883505
rs1555883505
EEF1A2
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs587777162
rs587777162
EEF1A2
T 0.700 CausalMutation CLINVAR Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072

2013
dbSNP: rs587777162
rs587777162
EEF1A2
T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012