Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555883505
rs1555883505
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C1843367
Disease:
Poor school performance
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
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C1843367
Disease:
Poor school performance
T 0.700 CausalMutation CLINVAR Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072 2013
dbSNP: rs587777162
rs587777162
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C1843367
Disease:
Poor school performance
T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012