rs10185736

This is a downstream gene variant variant in the KHK gene.

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GWAS Catalog Trait Associations (1)

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

metabolite measurement

Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)

Allele C

OR 0.22

p 3.0e-12

N 2,466

Large GWAS

multi-ancestry

About KHK

This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

View all KHK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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