Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763494292
rs763494292
HMGCL
CUI: C1291557
Disease: Deficiency of lyase
Deficiency of lyase 		0.010 GeneticVariation BEFREE The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency. 15308132

2004