rs5839764

This variant is located in the D2HGDH gene.

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GWAS Catalog Trait Associations (1)

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

cancer antigen 125 measurement

Olafsson S et al. “Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.” Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 29(1):225-235 (2020)

Allele G

OR 0.12

p 2.0e-11

N 9,824

Large GWAS

European

About D2HGDH

This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]

View all D2HGDH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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