rs766420

This variant is located in the TKTL1 gene.

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GWAS Catalog Trait Associations (2)

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

reticulocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.02

p 1.0e-21

N 408,112

Large GWAS

European

bilirubin measurement

Sanna S et al. “Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.” Human Molecular Genetics 18(14):2711-8 (2009)

Allele G

OR 0.18

p 9.0e-9

N 4,300

Large GWAS

European

About TKTL1

The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

View all TKTL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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