Standard

Exostosis of jaw (PheCode 526.8)

SDK1 · rs182658227

What the study found

Who was studied 214 African American or Afro-Caribbean cases, 120,940 African American or Afro-Caribbean controls, 451 European ancestry cases, 448,942 European ancestry controls.

The effect Each copy of the A allele shifted the measure 3.73 lower (95% confidence interval 3.71-3.74); p = 4 × 10−15.

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

Where it sits Chromosome 7, band 7p22.2 — in an intron of SDK1.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Exostosis of jaw (PheCode 526.8) compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Exostosis of jaw (PheCode 526.8).
G/G Published research associates this genotype with typical/baseline likelihood of Exostosis of jaw (PheCode 526.8) — no copies of the reported risk allele.
Source

Questions about rs182658227

What is rs182658227?

rs182658227 is a single position in the genome, in or near the SDK1 gene. Published research associates it with exostosis of jaw (phecode 526.8). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs182658227 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 rs182658227 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

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.

Exostosis of jaw (PheCode 526.8) (rs182658227). MyGeneLog™. https://www.mygenelog.com/variants/rs182658227

← See all variants