Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769048174
rs769048174
IVD
G 0.700 CausalMutation CLINVAR Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant. 23587913

2013
dbSNP: rs769048174
rs769048174
IVD
G 0.700 CausalMutation 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: rs769048174
rs769048174
IVD
G 0.700 GeneticVariation CLINVAR