Trait

SNPs associated with Pyruvate kinase deficiency

1 genetic variant across 1 genes have been associated with Pyruvate kinase deficiency in published research. Key genes include KCNQ1.

Associated variants1 total

rsidGeneEffectEvidence
rs74315363KCNQ1Increased risk of hereditary hemolytic anemiaCandidate gene study

Associations aggregated from the GWAS Catalog and curated literature. Informational only — not medical advice.

Pyruvate kinase deficiency — SNPs & genetic associations — Gene Wizard