rs1057037

This variant is located in the PFKL gene.

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GWAS Catalog Trait Associations (1)

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

HbA1c measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele T

OR 0.03

p 3.0e-10

N 338,919

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

not specified; not provided

View on ClinVar →

About PFKL

This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

View all PFKL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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