Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756712426
rs756712426
Entrez Id: 3419
Gene Symbol: IDH3A
IDH3A
CUI: C0085584
Disease:
Encephalopathies 		0.010 GeneticVariation BEFREE Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy. 28058510 2017