rs759159766, IVD

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
0.700 GeneticVariation CLINVAR Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. 10677295 2000
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
0.700 CausalMutation CLINVAR