Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777162
rs587777162
EEF1A2
T 0.800 CausalMutation CLINVAR Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. 28911200

2017
dbSNP: rs587777162
rs587777162
EEF1A2
T 0.800 CausalMutation CLINVAR Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice. 28378778

2017
dbSNP: rs587777162
rs587777162
EEF1A2
0.800 GeneticVariation UNIPROT Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072

2013
dbSNP: rs587777162
rs587777162
EEF1A2
0.800 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012