Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039346
rs886039346
EEF1A2
A 0.700 GeneticVariation CLINVAR Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. 28911200

2017
dbSNP: rs886039346
rs886039346
EEF1A2
A 0.700 GeneticVariation CLINVAR Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. 27441201

2016