rs2388595

▶

GWAS Catalog Trait Associations (8)

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

lactate measurement

Nemkov T et al. “Biological and genetic determinants of glycolysis: Phosphofructokinase isoforms boost energy status of stored red blood cells and transfusion outcomes.” Cell Metabolism 36(9):1979-1997.e13 (2024)
Allele T
OR 0.30
p 1.0e-163
N 11,334
Large GWAS
multi-ancestry
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.05
p 2.0e-123
N 450,015
Large GWAS
multi-ancestry

glucose measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.04
p 6.0e-93
N 450,015
Large GWAS
multi-ancestry

pyruvate measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.08
p 3.0e-87
N 114,749
Large GWAS
European
Nemkov T et al. “Biological and genetic determinants of glycolysis: Phosphofructokinase isoforms boost energy status of stored red blood cells and transfusion outcomes.” Cell Metabolism 36(9):1979-1997.e13 (2024)
Allele C
OR 0.07
p 8.0e-11
N 11,334
Large GWAS
multi-ancestry

platelet volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 3.0e-28
N 394,642
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.11
p 3.0e-17
N 10,708
Large GWAS
European

This variant is in our database but has no known associations or PRS memberships yet.

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…