Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555749239
rs1555749239
0.810 GeneticVariation UNIPROT Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8541831

1995

dbSNP: rs1555749239
rs1555749239
0.810 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs1555749239
rs1555749239
0.810 GeneticVariation BEFREE Two novel mutations, p.Glu64Asp and p.Gly268Val, account for the majority of disease alleles (76.5%) in Cypriot patients with Glutaric aciduria type I. 24973495

2014

dbSNP: rs1555749239
rs1555749239
0.810 GeneticVariation UNIPROT Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228

1996

dbSNP: rs1555749239
rs1555749239
T 0.810 GeneticVariation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004

dbSNP: rs1555749239
rs1555749239
T 0.810 GeneticVariation CLINVAR Two novel mutations, p.Glu64Asp and p.Gly268Val, account for the majority of disease alleles (76.5%) in Cypriot patients with Glutaric aciduria type I. 24973495

2014

dbSNP: rs1555749239
rs1555749239
0.810 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954

2008

dbSNP: rs1555749239
rs1555749239
0.810 GeneticVariation UNIPROT Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. 8900227

1996

dbSNP: rs1555749239
rs1555749239
0.810 GeneticVariation UNIPROT Two novel mutations, p.Glu64Asp and p.Gly268Val, account for the majority of disease alleles (76.5%) in Cypriot patients with Glutaric aciduria type I. 24973495

2014

dbSNP: rs1555749239
rs1555749239
T 0.810 GeneticVariation CLINVAR Glutaric Aciduria type I and acute renal failure - Coincidence or causality? 27896087

2014

dbSNP: rs1555749239
rs1555749239
0.810 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998

dbSNP: rs121434366
rs121434366
0.800 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014

dbSNP: rs121434366
rs121434366
0.800 GeneticVariation UNIPROT Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8541831

1995

dbSNP: rs121434366
rs121434366
0.800 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998

dbSNP: rs121434366
rs121434366
0.800 GeneticVariation UNIPROT Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. 8900227

1996

dbSNP: rs121434366
rs121434366
0.800 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954

2008

dbSNP: rs121434366
rs121434366
0.800 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs121434366
rs121434366
C 0.800 CausalMutation CLINVAR

dbSNP: rs121434366
rs121434366
0.800 GeneticVariation UNIPROT Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228

1996

dbSNP: rs121434370
rs121434370
0.800 GeneticVariation UNIPROT Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228

1996

dbSNP: rs121434370
rs121434370
0.800 GeneticVariation UNIPROT Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. 8900227

1996

dbSNP: rs121434370
rs121434370
A 0.800 CausalMutation CLINVAR Glutaric aciduria type I: outcome in the Republic of Ireland. 15505400

2004

dbSNP: rs121434370
rs121434370
A 0.800 GeneticVariation CLINVAR

dbSNP: rs121434370
rs121434370
0.800 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998

dbSNP: rs121434370
rs121434370
A 0.800 CausalMutation CLINVAR Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. 8900227

1996