RS1050828 G6PD
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What This Variant Does
"rs1050828, also known as c.292G>
Associated Conditions
G6PD ASAHI
Anemia
nonspherocytic hemolytic
due to G6PD deficiency
G6PD deficiency
Inborn genetic diseases
Malaria
susceptibility to
G6PD ASAHI
Anemia
nonspherocytic hemolytic
due to G6PD deficiency
G6PD deficiency
Inborn genetic diseases
Malaria
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Glycated hemoglobin HbA1c levels | T | OR: 0.33 | 7E-322 | PubMed |
| Glycated hemoglobin levels | T | OR: 0.38 | 8E-135 | PubMed |
| Glycated hemoglobin levels | T | OR: 0.35 | 1E-133 | PubMed |
| Glycated hemoglobin levels | T | OR: 0.31 | 5E-124 | PubMed |
| Red cell distribution width | T | OR: 0.66 | 8E-106 | PubMed |
| Red blood cell count | T | OR: 0.15 | 4E-82 | PubMed |
| Mean corpuscular volume | T | OR: 1.84 | 4E-82 | PubMed |
| Mean sphered cell volume (UKB data field 30270) | — | — | 1E-57 | PubMed |
| High light scatter reticulocyte count (UKB data field 30300) | — | — | 1E-54 | PubMed |
| Pyruvate levels in blood donors | T | OR: 0.52 | 8E-51 | PubMed |
| Mean corpuscular hemoglobin | T | OR: 0.56 | 2E-48 | PubMed |
| Red cell distribution width | T | β: 0.04 | 4E-29 | PubMed |
| Hemoglobin | T | OR: 0.2 | 1E-28 | PubMed |
| Hematocrit | T | OR: 0.52 | 3E-22 | PubMed |
| Type 2 diabetes | C | OR: 0.38 | 2E-19 | PubMed |
| Low density lipoprotein cholesterol levels | T | β: 0.057 | 1E-18 | PubMed |
| Red blood cell count | C | OR: 0.13 | 2E-18 | PubMed |
| Mean corpuscular volume | C | OR: 1.92 | 1E-17 | PubMed |
| hemolysis of donated blood (oxidative) | — | OR: 3.8 | 3E-17 | PubMed |
| Red blood cell traits | A | OR: 2.46 | 1E-14 | PubMed |
Population Frequencies
gnomAD ALL
0.4%
1kG AFR
13.5%
1kG ALL
3.8%
1kG AMR
98.7%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in G6PD