RS2272783 FECH
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What This Variant Does
"rs2272783, also known as IVS3-48T-C, is a mutation in the ferrochelatase FECH gene leading to lowere...
Associated Conditions
Protoporphyria
erythropoietic
1
Erythema
Jaundice
Autosomal erythropoietic protoporphyria
Protoporphyria
erythropoietic
1
Erythema
Jaundice
Autosomal erythropoietic protoporphyria
GWAS Studies (18)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Mean corpuscular hemoglobin | G | β: 0.028 | 1E-19 | PubMed |
| Mean corpuscular hemoglobin | G | — | 7E-19 | PubMed |
| Red blood cell distribution width | G | β: 0.038 | 9E-18 | PubMed |
| Red cell distribution width | — | — | 4E-16 | PubMed |
| Red blood cell erythrocyte distribution width (UKB data field 30070) | G | β: 0.037 | 5E-16 | PubMed |
| Mean corpuscular volume | G | β: 0.024 | 2E-14 | PubMed |
| Mean corpuscular hemoglobin | G | β: 0.028 | 2E-14 | PubMed |
| Red cell distribution width | A | β: 0.035 | 3E-14 | PubMed |
| Mean corpuscular volume | G | — | 2E-13 | PubMed |
| Mean corpuscular hemoglobin | A | β: 0.029 | 1E-12 | PubMed |
| Red cell distribution width | G | β: 0.038 | 2E-12 | PubMed |
| Red cell distribution width | A | — | 2E-12 | PubMed |
| Mean corpuscular hemoglobin | — | — | 4E-12 | PubMed |
| Mean corpuscular hemoglobin | — | β: 0.029 | 7E-12 | PubMed |
| Mean corpuscular haemoglobin (UKB data field 30050) | G | β: 0.03 | 7E-12 | PubMed |
| Height | G | β: 0.009 | 9E-12 | PubMed |
| Mean corpuscular volume | G | β: 0.024 | 4E-11 | PubMed |
| Mean corpuscular volume | — | β: 0.025 | 6E-9 | PubMed |
Other Variants in FECH