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Hypothyroidism

POLR1HASP · rs9260323

Where this position leads

Condition: Hypothyroidism

rs9260323 Condition: Hypothyroidism Hypothyroidism Condition rs9260323 rs9260323 POLR1HASP

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−19, with 2 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 394,626 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.111 lower (95% confidence interval 0.085-0.137); p = 2 × 10−19.

How common The A allele had a frequency of about 18% in the people studied.

Where it sits Chromosome 6, band 6p22.1 — in the 3′ untranslated region of POLR1HASP.

What each result means

A/A Two copies of the version the research linked to Hypothyroidism. 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 Hypothyroidism. That is a smaller link than two copies.
G/G No copy of the version the research linked to Hypothyroidism. This is the starting point the study compared everyone against.
Source

Questions about rs9260323

What is rs9260323?

rs9260323 is a single position in the genome, in or near the POLR1HASP gene. Published research associates it with hypothyroidism. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs9260323 linked to?

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

Does having rs9260323 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 rs9260323 come from?

GWAS Catalog, Nature genetics 2025, PMID:39789286. 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

Hypothyroidism (rs9260323). MyGeneLog™. https://www.mygenelog.com/variants/rs9260323

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