RS113403872 PKLR
Upload your DNA to see your genotype for this variant.
What This Variant Does
"[OMIM:?]
Associated Conditions
Pyruvate kinase deficiency of red cells
PKLR-related disorder
Congenital anemia
Pyruvate kinase deficiency of red cells
PKLR-related disorder
Congenital anemia
GWAS Studies (7)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| PKLR protein levels | T | OR: 1.25 | 7E-51 | PubMed |
| Hemoglobin levels | — | OR: 0.25 | 2E-14 | PubMed |
| Hemoglobin | T | OR: 0.23 | 2E-12 | PubMed |
| Haemoglobin concentration (UKB data field 30020) | T | OR: 0.17 | 2E-12 | PubMed |
| Hematocrit | T | OR: 0.22 | 2E-11 | PubMed |
| Red blood cell count | — | OR: 0.2 | 2E-10 | PubMed |
| Red blood cell count | T | OR: 0.2 | 2E-9 | PubMed |
Other Variants in PKLR