Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204613
rs786204613
IVD
C 0.700 CausalMutation CLINVAR Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene. 22960500

2012
dbSNP: rs786204613
rs786204613
IVD
C 0.700 CausalMutation CLINVAR Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase. 10713113

2000
dbSNP: rs786204613
rs786204613
IVD
C 0.700 GeneticVariation CLINVAR Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase. 10713113

2000
dbSNP: rs786204613
rs786204613
IVD
C 0.700 GeneticVariation CLINVAR Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. 2063866

1991