rs1800562 a variant in the HFE gene

What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs1800562 is the catalogue number of one of them, in the HFE gene. Which letters you carry there — one copy from each parent — is your genotype.

HFE (homeostatic iron regulator): The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin.

Gene description from NCBI Gene

rs1800562 represents a SNP that accounts for ~85&#37

From SNPedia

Why might it matter?

ClinVar records this variant as conflicting interpretations, meaning laboratories that have assessed it do not agree on whether it matters. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

• 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

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

Supplements

Do I have this variant?

Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers related to HFE

• Ferritin
• Iron
• Transferrin Saturation
• Transferrin
• Total Iron-Binding Capacity (TIBC)

HFE variants can cause iron to accumulate. Monitor iron, ferritin, and transferrin saturation.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

What should I do next?

1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.

This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID

rs1800562

Gene

HFE

Position (GRCh38)

chr6:26092912

Variant type

snv

Consequence

missense variant

ClinVar classification

Conflicting classifications of pathogenicity; other; risk factor

Genome-wide association studies (20)

How common the less frequent letter is

gnomAD ALL

5.9%

1kG AFR

0.2%

1kG ALL

1.3%

1kG AMR

2.2%

1kG EAS

100%

1kG EUR

4.3%

1kG SAS

0.2%

Sources

• dbSNP: rs1800562 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: HFE
• Ensembl: HFE
• GWAS Catalog — association studies

Related

Other variants in HFE

• rs1799945
• rs1800730
• rs111033558
• rs111033563
• rs146519482
• rs35201683
• rs148161858
• rs140080192
• rs143278243
• rs148307737

• The HFE gene
• SNP explorer
• Gene directory
• Health conditions