Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123190
rs398123190
GCDH ; SYCE2
C 0.700 GeneticVariation CLINVAR Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. 27672653

2019
dbSNP: rs398123190
rs398123190
GCDH ; SYCE2
C 0.700 GeneticVariation CLINVAR Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. 24332224

2014
dbSNP: rs398123190
rs398123190
GCDH ; SYCE2
C 0.700 GeneticVariation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004
dbSNP: rs398123190
rs398123190
GCDH ; SYCE2
C 0.700 GeneticVariation CLINVAR Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. 11058907

2000