rs2600895

This variant is located in the SORD gene.

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GWAS Catalog Trait Associations (1)

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

hepcidin measurement

Allara E et al. “Novel loci and biomedical consequences of iron homoeostasis variation.” Communications Biology 7(1):1631 (2024)

Allele A

OR 0.08

p 3.0e-11

N 91,675

Large GWAS

European

About SORD

Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]

View all SORD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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