RS116100695 PKLR
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What This Variant Does
"[OMIM:?]
Associated Conditions
Pyruvate kinase deficiency of red cells
Pyruvate kinase hyperactivity
See cases
PKLR-related disorder
Pyruvate kinase deficiency of red cells
Pyruvate kinase hyperactivity
See cases
PKLR-related disorder
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Reticulocyte fraction of red cells | A | OR: 0.36 | 2E-64 | PubMed |
| Reticulocyte count | — | OR: 0.31 | 2E-59 | PubMed |
| High light scatter reticulocyte percentage of red cells | A | OR: 0.34 | 2E-58 | PubMed |
| High light scatter reticulocyte count | — | OR: 0.3 | 2E-57 | PubMed |
| Reticulocyte percentage (UKB data field 30240) | A | OR: 0.29 | 1E-55 | PubMed |
| Reticulocyte count | A | OR: 0.32 | 1E-52 | PubMed |
| High light scatter reticulocyte percentage (UKB data field 30290) | A | OR: 0.28 | 1E-52 | PubMed |
| High light scatter reticulocyte count | A | OR: 0.32 | 8E-51 | PubMed |
| Reticulocyte count (UKB data field 30250) | A | OR: 0.26 | 3E-45 | PubMed |
| Pyruvate levels | G | OR: 0.47 | 9E-32 | PubMed |
| Hemoglobin | A | OR: 0.19 | 1E-19 | PubMed |
| Hematocrit | A | OR: 0.18 | 4E-18 | PubMed |
| Immature fraction of reticulocytes | A | OR: 0.17 | 4E-16 | PubMed |
| Hemoglobin levels | — | OR: 0.16 | 9E-16 | PubMed |
| Immature fraction of reticulocytes | — | OR: 0.15 | 1E-15 | PubMed |
| Immature reticulocyte fraction (UKB data field 30280) | A | OR: 0.15 | 1E-14 | PubMed |
| Reticulocyte fraction of red cells | A | OR: 0.32 | 2E-14 | PubMed |
| Haemoglobin concentration (UKB data field 30020) | A | OR: 0.11 | 4E-13 | PubMed |
| Red blood cell count | — | OR: 0.13 | 1E-11 | PubMed |
| Reticulocyte count | A | OR: 0.28 | 2E-11 | PubMed |
Population Frequencies
gnomAD ALL
99.7%
1kG AFR
100%
1kG ALL
99.8%
1kG AMR
99.7%
1kG EAS
100%
1kG EUR
0.5%
1kG SAS
0.1%
Other Variants in PKLR