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Mean corpuscular hemoglobin concentration variance

HBE1 · rs542968504

What the study found

Who was studied 407,849 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.604 higher (95% confidence interval 0.42-0.79); p = 2 × 10−10.

Where it sits Chromosome 11, band 11p15.4 — in an intron of HBE1.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Mean corpuscular hemoglobin concentration variance compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Mean corpuscular hemoglobin concentration variance.
G/G Published research associates this genotype with typical/baseline likelihood of Mean corpuscular hemoglobin concentration variance — no copies of the reported risk allele.
Source

Questions about rs542968504

What is rs542968504?

rs542968504 is a single position in the genome, in or near the HBE1 gene. Published research associates it with mean corpuscular hemoglobin concentration variance. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs542968504 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs542968504 come from?

GWAS Catalog, Nature communications 2025, PMID:40335489. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Mean corpuscular hemoglobin concentration variance (rs542968504). MyGeneLog™. https://www.mygenelog.com/variants/rs542968504

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