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
A 0.800 CausalMutation CLINVAR Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. 27904153

2017
dbSNP: rs2229311
rs2229311
IVD
A 0.800 CausalMutation CLINVAR Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. 27904153

2017
dbSNP: rs28940889
rs28940889
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: rs28940889
rs28940889
IVD
T 0.800 CausalMutation CLINVAR Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. 27904153

2017
dbSNP: rs371427844
rs371427844
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: rs773560012
rs773560012
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: rs28940889
rs28940889
IVD
T 0.800 CausalMutation CLINVAR Angelman syndrome and isovaleric acidemia: What is the link? 26937393

2015
dbSNP: rs773560012
rs773560012
IVD
G 0.800 GeneticVariation CLINVAR Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia. 26018748

2015
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: rs2229311
rs2229311
IVD
A 0.800 GeneticVariation CLINVAR Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia. 25220015

2014
dbSNP: rs142761835
rs142761835
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 Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant. 23587913

2013
dbSNP: rs371427844
rs371427844
IVD
0.800 GeneticVariation UNIPROT Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant. 23587913

2013
dbSNP: rs773560012
rs773560012
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 CausalMutation CLINVAR Clinical variability of isovaleric acidemia in a genetically homogeneous population. 22350545

2012
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: 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: rs28940889
rs28940889
IVD
0.800 GeneticVariation UNIPROT Clinical variability of isovaleric acidemia in a genetically homogeneous population. 22350545

2012
dbSNP: rs371427844
rs371427844
IVD
0.800 GeneticVariation UNIPROT Clinical variability of isovaleric acidemia in a genetically homogeneous population. 22350545

2012
dbSNP: rs773560012
rs773560012
IVD
0.800 GeneticVariation UNIPROT Clinical variability of isovaleric acidemia in a genetically homogeneous population. 22350545

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

2011
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 Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. 22004070

2011