RS1800562 HFE
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What This Variant Does
"rs1800562 represents a SNP that accounts for ~85%
Associated Conditions
Hemochromatosis type 1
Hereditary cancer-predisposing syndrome
Hereditary hemochromatosis
Porphyrinuria
Cutaneous photosensitivity
7 conditions
Bronze diabetes
Cardiomyopathy
HFE-related disorder
Inborn genetic diseases
6 conditions
Juvenile hemochromatosis
Neuroendocrine neoplasm
Hemochromatosis type 1
Hereditary cancer-predisposing syndrome
Related Biomarkers
Ferritin
monitor
strong
Iron
monitor
strong
Transferrin Saturation
monitor
strong
Related Supplements
Iron supplements discuss with clinician
strong
HFE C282Y — supplemental iron may worsen iron overload
Vitamin C may interact
moderate
HFE C282Y — vitamin C increases iron absorption, use cautiously
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Mean corpuscular hemoglobin | A | OR: 0.39 | 1E-1685 | PubMed |
| Mean corpuscular volume | A | OR: 0.28 | 5E-1242 | PubMed |
| Red cell distribution width | A | OR: 0.24 | 3E-659 | PubMed |
| Hemoglobin | A | OR: 0.21 | 1E-526 | PubMed |
| Mean corpuscular hemoglobin concentration | A | OR: 0.19 | 5E-514 | PubMed |
| Hemoglobin | A | OR: 0.14 | 3E-362 | PubMed |
| Mean spheric corpuscular volume | A | OR: 0.17 | 2E-320 | PubMed |
| transferrin saturation (TSAT, maximum, inv-norm transformed) | G | OR: 0.46 | 4E-307 | PubMed |
| transferrin saturation (TSAT, mean, inv-norm transformed) | G | OR: 0.46 | 3E-302 | PubMed |
| Iron status biomarkers (transferrin saturation) | A | OR: 0.45 | 1E-300 | PubMed |
| Iron status biomarkers (total iron binding capacity) | A | OR: 0.45 | 1E-300 | PubMed |
| red cell diameter width (RDW, minimum, inv-norm transformed) | G | OR: 0.26 | 6E-298 | PubMed |
| transferrin saturation (TSAT, maximum, inv-norm transformed) | G | OR: 0.45 | 4E-293 | PubMed |
| transferrin saturation (TSAT, mean, inv-norm transformed) | G | OR: 0.45 | 4E-290 | PubMed |
| hemoglobin (mean, inv-norm transformed) | G | OR: 0.19 | 7E-282 | PubMed |
| red cell diameter width (RDW, maximum, inv-norm transformed) | G | OR: 0.19 | 2E-277 | PubMed |
| Iron status biomarkers (iron levels) | A | OR: 0.27 | 4E-276 | PubMed |
| Iron status biomarkers (transferrin saturation) | A | OR: 0.58 | 2E-270 | PubMed |
| Mean corpuscular haemoglobin concentration (UKB data field 30060) | A | OR: 0.14 | 2E-248 | PubMed |
| iron (maximum, inv-norm transformed) | G | OR: 0.34 | 6E-248 | PubMed |
Other Variants in HFE