Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142761835
rs142761835
IVD
0.800 GeneticVariation UNIPROT Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants. 28535199

2017
dbSNP: rs142761835
rs142761835
IVD
0.800 GeneticVariation UNIPROT Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. 9665741

1998
dbSNP: rs142761835
rs142761835
IVD
0.800 GeneticVariation UNIPROT Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. 2063866

1991
dbSNP: rs142761835
rs142761835
IVD
A 0.800 GeneticVariation CLINVAR Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. 22004070

2011
dbSNP: rs142761835
rs142761835
IVD
0.800 GeneticVariation UNIPROT Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant. 23587913

2013
dbSNP: rs142761835
rs142761835
IVD
A 0.800 GeneticVariation CLINVAR Clinical variability of isovaleric acidemia in a genetically homogeneous population. 22350545

2012
dbSNP: rs142761835
rs142761835
IVD
0.800 GeneticVariation UNIPROT Clinical variability of isovaleric acidemia in a genetically homogeneous population. 22350545

2012
dbSNP: rs142761835
rs142761835
IVD
A 0.800 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: rs142761835
rs142761835
IVD
0.800 GeneticVariation UNIPROT Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. 22004070

2011
dbSNP: rs1477527791
rs1477527791
IVD
A 0.800 GeneticVariation 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: rs1477527791
rs1477527791
IVD
A 0.800 GeneticVariation CLINVAR Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. 24516753

2014
dbSNP: rs1477527791
rs1477527791
IVD
0.800 GeneticVariation UNIPROT

dbSNP: rs2229311
rs2229311
IVD
C 0.800 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: rs2229311
rs2229311
IVD
A 0.800 GeneticVariation CLINVAR [Clinical and mutational study of a Chinese infant with isovaleric acidemia]. 19099814

2008
dbSNP: rs2229311
rs2229311
IVD
A 0.800 GeneticVariation CLINVAR Genetic mutation profile of isovaleric acidemia patients in Taiwan. 17027310

2007
dbSNP: rs2229311
rs2229311
IVD
C 0.800 GeneticVariation CLINVAR An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. 16825284

2006
dbSNP: rs2229311
rs2229311
IVD
C 0.800 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: rs2229311
rs2229311
IVD
A 0.800 GeneticVariation CLINVAR Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia. 25220015

2014
dbSNP: rs2229311
rs2229311
IVD
C 0.800 GeneticVariation CLINVAR Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. 9665741

1998
dbSNP: rs2229311
rs2229311
IVD
A 0.800 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: rs2229311
rs2229311
IVD
0.800 GeneticVariation UNIPROT

dbSNP: rs28940889
rs28940889
IVD
0.800 GeneticVariation UNIPROT Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant. 23587913

2013
dbSNP: rs28940889
rs28940889
IVD
0.800 GeneticVariation UNIPROT Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. 2063866

1991
dbSNP: rs28940889
rs28940889
IVD
0.800 GeneticVariation UNIPROT Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. 9665741

1998
dbSNP: rs28940889
rs28940889
IVD
0.800 GeneticVariation UNIPROT Clinical variability of isovaleric acidemia in a genetically homogeneous population. 22350545

2012