rs144025042

This variant is located in the LDHD gene.

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GWAS Catalog Trait Associations (3)

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

N-acetyl-2-aminooctanoate 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 A
OR 0.49
p 6.0e-23
N 6,136
Large GWAS
European

2-ketocaprylate 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 A
OR 0.50
p 1.0e-22
N 6,136
Large GWAS
European

2-aminooctanoate 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 A
OR 0.47
p 1.0e-20
N 6,136
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
3 submitters

not provided; LDHD-related disorder; Ovarian serous cystadenocarcinoma; Cholangiocarcinoma; Malignant tumor of esophagus; Lung cancer; Thymoma; Hepatocellular carcinoma

View on ClinVar →

About LDHD

The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

View all LDHD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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