rs10253757
This is a intron variant variant in the TPK1 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.
pyruvate measurement
Moore A et al. “Genome-wide metabolite quantitative trait loci analysis (mQTL) in red blood cells from volunteer blood donors.” The Journal of Biological Chemistry 298(12):102706 (2022)
Allele T
OR 1.82
p 4.0e-8
N 243
Small GWAS
About TPK1
The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]
View all TPK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…