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Hemoglobin levels

ATXN3 · rs7493524

Where this position leads

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻⁸, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 507,850 East Asian ancestry individuals, 420,829 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0074 higher (95% confidence interval 0.0049-0.0099); p = 2 × 10⁻⁸.

Where it sits Chromosome 14, band 14q32.12 — in an intron of ATXN3.

How common each version is

AG

Korean KRGDB

A 47.9% · G 52.1%

Korean Korea4K

A 45.7% · G 54.3%

Korean Korea1K

A 44.9% · G 55.1%

Japanese ToMMo

A 51.1% · G 48.9%

Vietnamese

A 52.4% · G 47.6%

World gnomAD

A 29.1% · G 70.9%

World 1000 Genomes

A 35.6% · G 64.4%

World TOPMed

A 29.0% · G 71.0%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

A/A Two copies of the version the research linked to Hemoglobin levels. That is the strongest link of the three results. A link in a study is not a diagnosis.

A/G One copy of the version the research linked to Hemoglobin levels. That is a smaller link than two copies.

G/G No copy of the version the research linked to Hemoglobin levels. This is the starting point the study compared everyone against.

Source

Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures

Jee YH, Wang Y, Jung KJ, Lee JY, Kimm H, Duan R, Price AL, Martin AR, Kraft P

Nature communications · 2025 · PMID 40436827 · open access

Questions about rs7493524

What is rs7493524?

rs7493524 is a single position in the genome, in or near the ATXN3 gene. Published research associates it with hemoglobin levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs7493524 linked to?

On MyGeneLog this position is linked to Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.

Does having rs7493524 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 rs7493524 come from?

GWAS Catalog, Nature communications 2025, PMID:40436827. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Hemoglobin levels (rs7493524). MyGeneLog™. https://www.mygenelog.com/variants/rs7493524

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