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rs1800562 HFE

HFE C282Y homozygous. High risk for hereditary hemochromatosis (iron overload). Monitor iron/ferritin levels; avoid iron supplements.

Curated · human-reviewed Nutrition · Risk / effect allele: A · dbSNP

What is rs1800562?

rs1800562 is a single-nucleotide polymorphism (SNP) in the HFE gene (Homeostatic iron regulator). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as AA. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs1800562 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
AAdecreasedHFE C282Y homozygous. High risk for hereditary hemochromatosis (iron overload). Monitor iron/ferritin levels; avoid iron supplements.92%
GA / AGdecreasedHFE C282Y carrier. Mildly increased iron absorption. Monitor iron levels periodically.88%
GGtypicalNormal iron metabolism.90%

How common is the A allele of rs1800562?

Minor-allele frequency by population (gnomAD / 1000 Genomes):

European6.0%
East Asian0.1%
African0.5%
South Asian1.0%
Admixed American3.0%
Global2.0%

Which drugs have annotations for rs1800562?

PharmGKB clinical annotations (level 1A is the strongest evidence, 4 the weakest):

DrugAnnotation typeEvidence level
erythropoietinDosage, Metabolism/PK3

Is rs1800562 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.

Sources

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.