Gene entry
HFE
homeostatic iron regulator
- Chromosome
- 6
- Cytoband
- 6p22.2
- Variants (rsID)
- 11
HFE is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p22.2). Its official name is “homeostatic iron regulator”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs2071303Benignsingle nucleotide variantHereditary hemochromatosis|Hemochromatosis type 1
- rs140080192Conflicting interpretationssingle nucleotide variantHemochromatosis type 1|Hereditary hemochromatosis
- rs1799945Conflicting interpretationssingle nucleotide variantHemochromatosis type 1|Microvascular complications of diabetes, susceptibility to, 7|Hereditary hemochromatosis|6 conditions|Cystic fibrosis|Bronze diabetes|Cardiomyopathy|Abnormality of iron homeostasis|See cases|Variegate porphyria
- rs1800562Conflicting interpretationssingle nucleotide variantHemochromatosis type 1|Porphyria cutanea tarda, susceptibility to|Alzheimer disease, susceptibility to|Microvascular complications of diabetes, susceptibility to, 7|Hemochromatosis, juvenile, digenic|Transferrin serum level quantitative trait locus 2|Porphyria variegata, susceptibility to|Hereditary cancer-predisposing syndrome|Hereditary hemochromatosis|Cutaneous photosensitivity|Porphyrinuria|Hemochromatosis type 2|Alzheimer disease|Bronze diabetes|7 conditions|Cardiomyopathy|HFE-related disorder
- rs1800730Conflicting interpretationssingle nucleotide variantHemochromatosis type 1|Hereditary hemochromatosis|6 conditions
- rs146519482Pathogenicsingle nucleotide variantHemochromatosis type 1|Hereditary hemochromatosis
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.