RS117706710 AMPD3
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Associated Conditions
Erythrocyte AMP deaminase deficiency
AMPD3-related disorder
Erythrocyte AMP deaminase deficiency
AMPD3-related disorder
GWAS Studies (19)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Hemoglobin A1c levels | — | OR: 0.16 | 1E-49 | PubMed |
| Glycated haemoglobin HbA1c levels (UKB data field 30750) | T | OR: 0.11 | 6E-34 | PubMed |
| Reticulocyte count | — | OR: 0.11 | 7E-25 | PubMed |
| High light scatter reticulocyte count | — | OR: 0.1 | 5E-24 | PubMed |
| Reticulocyte count | T | OR: 0.11 | 2E-19 | PubMed |
| High light scatter reticulocyte count | T | OR: 0.1 | 1E-18 | PubMed |
| Reticulocyte count (UKB data field 30250) | T | β: 0.086 | 6E-18 | PubMed |
| High light scatter reticulocyte count (UKB data field 30300) | T | β: 0.08 | 5E-16 | PubMed |
| High light scatter reticulocyte percentage of red cells | T | β: 0.093 | 2E-15 | PubMed |
| Reticulocyte fraction of red cells | T | β: 0.094 | 2E-15 | PubMed |
| Hemoglobin levels | T | β: 0.081 | 8E-15 | PubMed |
| Reticulocyte percentage (UKB data field 30240) | T | β: 0.078 | 9E-15 | PubMed |
| High light scatter reticulocyte percentage (UKB data field 30290) | T | β: 0.074 | 8E-14 | PubMed |
| Hemoglobin levels | — | β: 0.077 | 3E-13 | PubMed |
| Hemoglobin | T | β: 0.083 | 1E-12 | PubMed |
| HDL cholesterol levels (UKB data field 30760) | T | β: 0.056 | 5E-12 | PubMed |
| Hematocrit | T | β: 0.075 | 1E-10 | PubMed |
| Glycated hemoglobin HbA1c levels | T | β: 0.037 | 2E-10 | PubMed |
| Glycated hemoglobin levels | T | β: 0.046 | 5E-8 | PubMed |
Population Frequencies
gnomAD ALL
0.8%
1kG AFR
100%
1kG ALL
99.7%
1kG AMR
0.3%
1kG EAS
100%
1kG EUR
99%
1kG SAS
99.8%
Other Variants in AMPD3