Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143746450
rs143746450
HIBCH
CUI: C0342738
Disease: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		T 0.700 GeneticVariation CLINVAR Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 26163321

2015
dbSNP: rs143746450
rs143746450
HIBCH
CUI: C0342738
Disease: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 		T 0.700 GeneticVariation CLINVAR Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. 17160907

2007