Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760822119
rs760822119
IVD
0.700 GeneticVariation UNIPROT Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants. 28535199

2017
dbSNP: rs760822119
rs760822119
IVD
0.700 GeneticVariation UNIPROT Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant. 23587913

2013
dbSNP: rs760822119
rs760822119
IVD
0.700 GeneticVariation UNIPROT Clinical variability of isovaleric acidemia in a genetically homogeneous population. 22350545

2012
dbSNP: rs760822119
rs760822119
IVD
0.700 GeneticVariation UNIPROT Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. 22004070

2011
dbSNP: rs760822119
rs760822119
IVD
0.700 GeneticVariation UNIPROT Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. 9665741

1998
dbSNP: rs760822119
rs760822119
IVD
0.700 GeneticVariation UNIPROT Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. 2063866

1991