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Hypothyroidism

PPHLN1 · rs11181403

Where this position leads

Condition: Hypothyroidism

rs11181403 Condition: Hypothyroidism Hypothyroidism Condition rs11181403 rs11181403 PPHLN1

What the study found

Who was studied 257,365 African ancestry, admixed American, East Asian ancestry, European ancestry, South Asian ancestry, Greater Middle Eastern cases, 2,186,763 African ancestry, admixed American, East Asian ancestry, European ancestry, South Asian ancestry, Greater Middle Eastern controls.

The effect Each copy of the A allele shifted the measure 0.0282 lower (95% confidence interval 0.021-0.035); p = 4 × 10−16.

How common The A allele had a frequency of about 39% in the people studied.

Where it sits Chromosome 12, band 12q12 — in an intron of PPHLN1.

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 rs11181403

What is rs11181403?

rs11181403 is a single position in the genome, in or near the PPHLN1 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 rs11181403 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 rs11181403 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 rs11181403 come from?

GWAS Catalog, Nature genetics 2026, PMID:41644669. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Hypothyroidism (rs11181403). MyGeneLog™. https://www.mygenelog.com/variants/rs11181403

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