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rs1799945 HFE

HFE H63D homozygous. Moderately increased iron absorption; mild hemochromatosis risk.

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

What is rs1799945?

rs1799945 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 GG. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs1799945 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
GGdecreasedHFE H63D homozygous. Moderately increased iron absorption; mild hemochromatosis risk.82%
CG / GCtypicalHFE H63D carrier. Slightly increased iron absorption.78%
CCtypicalNormal HFE H63D. Typical iron metabolism.82%

How common is the G allele of rs1799945?

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

European14.0%
East Asian4.0%
African3.0%
South Asian8.0%
Admixed American10.0%
Global8.0%

Which drugs have annotations for rs1799945?

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

DrugAnnotation typeEvidence level
erythropoietinDosage, Metabolism/PK3

Is rs1799945 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.