rs1800562
Iron overload, C282Y
What this position does
Hereditary haemochromatosis makes the gut absorb more iron than the body can dispose of, and it accumulates in the liver, heart and pancreas over decades. It is one of the most common inherited conditions in people of northern European descent, and one of the most treatable if it is found early.
What each result means
| If you carry | What it means |
|---|---|
| No copies of the effect version GG | You do not carry C282Y Neither copy carries C282Y. |
| One copy AG | You carry one copy, and carriers very rarely develop iron overload One copy. Carriers very rarely develop iron overload, though some have slightly raised iron markers on a blood test. |
| Two copies AA | You carry two copies, which is worth a simple blood test The genotype found in most people diagnosed with hereditary haemochromatosis. Importantly, most people with two copies never develop the disease: penetrance is low, and lower still in women. What this genotype justifies is a ferritin and transferrin saturation blood test, which costs very little and settles the question directly. |
Worth knowing. Common enough to be called reliably on a chip, which is why it is here when rarer disease variants are not. It is still not a diagnosis. Iron status is measured with a blood test, not a genotype.
How common each version is
| Ancestry group | A (the effect version) | |
|---|---|---|
| African | 0.2% | |
| American | 2.2% | |
| East Asian | 0.0% | |
| European | 4.3% | |
| South Asian | 0.2% |
1000 Genomes Project phase 3, via Ensembl, retrieved 2026-09-23. These groupings are coarse and flatten a great deal of internal diversity, particularly within Africa. A variant being common somewhere tells you where a piece of your ancestry probably comes from, and nothing else.
How many people carry each result
| Ancestry group | GG | AG | AA |
|---|---|---|---|
| African | 658 / 661 | 3 / 661 | 0 / 661 |
| European | 461 / 503 | 41 / 503 | 1 / 503 |
| East Asian | 504 / 504 | 0 / 504 | 0 / 504 |
| South Asian | 487 / 489 | 2 / 489 | 0 / 489 |
| American | 333 / 347 | 13 / 347 | 1 / 347 |
Counts of people, not modelled frequencies: every one of the 2,504 individuals sequenced by the 1000 Genomes Project phase 3, tallied by the genotype they carry. Deriving these from allele frequencies instead would assume random mating inside each group and undercount the homozygotes.
How to find out which you have
If you have taken a test with 23andMe, AncestryDNA, MyHeritage, Family Tree DNA, TellMeGen or Living DNA, this position is very likely already in the raw data file they gave you. You do not need another test.
One thing to watch if you look it up by hand: testing companies report some positions from one DNA strand and some from the other, and the file does not say which. Read the letters as they appear and you will get the opposite of the truth for some positions. Sequencings resolves that automatically.
Source
Coordinates and allele pair verified against Ensembl GRCh37. Direction of effect verified against VEP protein consequences or 1000 Genomes population frequency. Category: Health-adjacent.
Related
- rs1799945 — Iron overload, H63D
Where this fits
Common questions
What is rs1800562?
rs1800562 is a position in the HFE gene on chromosome 6. Hereditary haemochromatosis makes the gut absorb more iron than the body can dispose of, and it accumulates in the liver, heart and pancreas over decades. It is one of the most common inherited conditions in people of northern European descent, and one of the most treatable if it is found early.
What does it mean if I have AA at rs1800562?
You carry two copies, which is worth a simple blood test. The genotype found in most people diagnosed with hereditary haemochromatosis. Importantly, most people with two copies never develop the disease: penetrance is low, and lower still in women. What this genotype justifies is a ferritin and transferrin saturation blood test, which costs very little and settles the question directly.
What does it mean if I have GG at rs1800562?
You do not carry C282Y. Neither copy carries C282Y.
How do I find out my rs1800562 genotype?
If you have taken a home DNA test, this position is very likely in the raw data file you were given. Sequencings reads that file in your browser without uploading it, and resolves which DNA strand each position was reported from, which is the step most manual lookups get wrong.
This is reference information, not medical advice, and not a diagnosis. See the medical disclaimer. Category: Health-adjacent.