Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205866
rs786205866
EEF1A2
T 0.700 CausalMutation CLINVAR Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. 27441201

2016
dbSNP: rs786205866
rs786205866
EEF1A2
T 0.700 CausalMutation CLINVAR Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations. 26682508

2016
dbSNP: rs786205866
rs786205866
EEF1A2
T 0.700 CausalMutation CLINVAR De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. 24697219

2015
dbSNP: rs786205866
rs786205866
EEF1A2
T 0.700 CausalMutation CLINVAR Mutations in elongation factor EF-1 alpha affect the frequency of frameshifting and amino acid misincorporation in Saccharomyces cerevisiae. 3066688

1988
dbSNP: rs786205866
rs786205866
EEF1A2
T 0.700 GeneticVariation CLINVAR