rs114353144
This variant is located in the KHK gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of ketohexokinase in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.46
p 9.0e-17
N 47,745
Large GWAS
European
▶ClinVar annotation
Conflicting Classifications
2 submitters1 publicationEssential fructosuria; not provided
View on ClinVar →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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