Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I. 28389991

2017
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 GeneticVariation CLINVAR Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture. 28062662

2017
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I. 28389991

2017
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 CausalMutation CLINVAR Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India. 26071121

2016
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 GeneticVariation CLINVAR Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India. 26071121

2016
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 CausalMutation CLINVAR Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel. 17188916

2007
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 GeneticVariation CLINVAR Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel. 17188916

2007
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 GeneticVariation CLINVAR Cerebral 1H MR spectroscopy revealing white matter NAA decreases in glutaric aciduria type I. 16488172

2006
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 GeneticVariation CLINVAR Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis. 11015709

2000
dbSNP: rs886043840
rs886043840
GCDH
T 0.700 GeneticVariation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000