Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964997
rs121964997
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		T 0.800 CausalMutation CLINVAR Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. 17173698

2006
dbSNP: rs121964997
rs121964997
HMGCL
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		T 0.800 CausalMutation CLINVAR HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q. 9463337

1998