RS1799945 HFE
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What This Variant Does
"rs1799945, also known as H63D or His63Asp, represents a SNP that accounts for a mild form of heredit...
Associated Conditions
Hemochromatosis type 1
Hereditary hemochromatosis
Cystic fibrosis
6 conditions
Bronze diabetes
Cardiomyopathy
Variegate porphyria
See cases
Neuroendocrine neoplasm
Hemochromatosis type 1
Hereditary hemochromatosis
Cystic fibrosis
6 conditions
Bronze diabetes
Cardiomyopathy
Related Biomarkers
Ferritin
monitor
moderate
Iron
monitor
moderate
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Mean corpuscular hemoglobin concentration | G | OR: 0.11 | 7E-410 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, minimum, inv-norm transformed) | C | OR: 0.15 | 7E-305 | PubMed |
| Hemoglobin levels | G | β: 0.099 | 2E-224 | PubMed |
| Reticulocyte fraction of red cells | G | β: 0.083 | 6E-154 | PubMed |
| Red cell distribution width | G | OR: 0.14 | 2E-143 | PubMed |
| Mean corpuscular hemoglobin concentration | G | OR: 0.12 | 1E-135 | PubMed |
| Reticulocyte count | G | β: 0.075 | 3E-123 | PubMed |
| Hemoglobin concentration | G | OR: 0.11 | 2E-103 | PubMed |
| Hemoglobin concentration | G | β: 0.099 | 2E-102 | PubMed |
| mean corpuscular hemoglobin (MCH, mean, inv-norm transformed) | C | OR: 0.19 | 1E-95 | PubMed |
| mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed) | C | OR: 0.18 | 5E-89 | PubMed |
| mean corpuscular hemoglobin (MCH, minimum, inv-norm transformed) | C | OR: 0.18 | 8E-85 | PubMed |
| Hemoglobin concentration | G | β: 0.09 | 7E-67 | PubMed |
| Diastolic blood pressure | G | OR: 0.35 | 1E-62 | PubMed |
| Hemoglobin A1c (HbA1c, minimum, inv-norm transformed) | C | β: 0.065 | 7E-60 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, maximum, inv-norm transformed) | C | OR: 0.14 | 2E-56 | PubMed |
| mean corpuscular volume (MCV, mean, inv-norm transformed) | C | OR: 0.14 | 6E-53 | PubMed |
| mean corpuscular volume (MCV, maximum, inv-norm transformed) | C | OR: 0.13 | 6E-50 | PubMed |
| Red blood cell side scatter | G | OR: 0.16 | 2E-49 | PubMed |
| Glycated hemoglobin levels | C | β: 0.025 | 3E-47 | PubMed |
Other Variants in HFE