Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34695403
rs34695403
IVD
T 0.700 GeneticVariation CLINVAR Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia. 17576084

2007
dbSNP: rs34695403
rs34695403
IVD
T 0.700 GeneticVariation CLINVAR A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. 15486829

2004
dbSNP: rs34695403
rs34695403
IVD
T 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
dbSNP: rs34695403
rs34695403
IVD
T 0.700 CausalMutation CLINVAR