Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886042041
rs886042041
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		T 0.700 GeneticVariation CLINVAR Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. 27441201 2016