rs7370843

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.

serum metabolite level

Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)

Allele A

OR 0.22

p 6.0e-15

N 3,926

Large GWAS

Hispanic or Latin American

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

D-2-hydroxyglutaric aciduria 1; not provided

View on ClinVar →

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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