Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1409716731
rs1409716731
HMGCL ; LOC105376861
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		G 0.700 CausalMutation CLINVAR 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. 28583327

2017
dbSNP: rs1409716731
rs1409716731
HMGCL ; LOC105376861
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		G 0.700 CausalMutation CLINVAR Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria. 14518825

2003