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Toxic multinodular goiter (PheCode 242.2)

near RPL31P13 · rs145211617

What the study found

Who was studied 271 African American or Afro-Caribbean cases, 121,449 African American or Afro-Caribbean controls, 367 European ancestry cases, 450,690 European ancestry controls.

The effect Each copy of the T allele shifted the measure 2.34 lower (95% confidence interval 2.3-2.39); p = 4 × 10−11.

How common The T allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 1, band 1q32.3 — between genes, 194.2 kb from RPL31P13.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Toxic multinodular goiter (PheCode 242.2) — no copies of the reported risk allele.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Toxic multinodular goiter (PheCode 242.2).
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Toxic multinodular goiter (PheCode 242.2) compared to the general population.
Source

Questions about rs145211617

What is rs145211617?

rs145211617 is a single position in the genome, in or near the near RPL31P13 gene. Published research associates it with toxic multinodular goiter (phecode 242.2). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs145211617 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 rs145211617 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. 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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Toxic multinodular goiter (PheCode 242.2) (rs145211617). MyGeneLog™. https://www.mygenelog.com/variants/rs145211617

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