rs138640017

This variant is located in the GLDC gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

glycine measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 1.05
p 3.0e-139
N 90,223
Large GWAS
multi-ancestry

hexanoylglycine measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele G
OR 0.65
p 2.0e-11
N 6,136
Large GWAS
European

3-methylglutarylcarnitine (2) measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele G
OR 0.61
p 3.0e-11
N 6,136
Large GWAS
European
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ClinVar annotation

Conflicting Classifications
7 submitters1 publication

Glycine encephalopathy; not provided; Inborn genetic diseases; GLDC-related disorder

View on ClinVar →

About GLDC

Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]

View all GLDC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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