Exostosis of Jaw, as genome-wide studies have reported it: 17 positions from 1 study, the largest recording 665 cases and 569,882 controls (African American or Afro-Caribbean ancestry, European ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
Genome-wide studies have so far placed 17 positions on Exostosis of Jaw, from 1 study; the GWAS Catalog files the condition as "Exostosis of jaw (PheCode 526.8)". MyGeneLog's code assembles this page from those records and rebuilds it when a new position is reported — nothing here was written by hand, and nothing here goes beyond what the records say.
Verma A et al. 2024, in Science — Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. The catalogue records its sample as 665 cases and 569,882 controls (African American or Afro-Caribbean ancestry, European ancestry). The 17 positions on this page from it: rs369611135 (PCDH9), rs182658227 (SDK1), rs190073601 (DENND1B), rs143106204 (LINC02997), rs193167778 (PLB1), rs577272962 (PWRN1), rs182756278 (PRKN), rs187052602 (near MIR1202), and 9 more. PMID:39024449.
The 17 positions sit in or beside 17 genes: PCDH9, SDK1, DENND1B, LINC02997, PLB1, PWRN1, PRKN, MIR1202, AOX2P, FTH1P7, LINC02873, KCTD8, MFF, LINC02819, DDC, LINC03019, CRYBG1. These are locations, as the catalogue records them; whether any of these genes is how a position acts is a question the records leave open.
The strongest association in the records is rs369611135 in PCDH9, reported by Verma A et al. 2024 at P = 3 × 10-15.
It is a record of what genome-wide studies have reported about Exostosis of Jaw, kept current by code. It is not a description of the condition, an estimate of how common it is, or guidance of any kind — a page that took those from association records would be inventing them. Each variant page linked here carries that study's own record for the position in fixed sentences, and ClinVar's record where one exists.
A genotype does not diagnose Exostosis of Jaw; a clinician does. No guideline uses the 17 variants on this page to predict it, screen for it or confirm it.
Everything here comes from population-level association records, put together by code. Those records compare groups of people; they do not examine anyone, and they give no guidance on care. For symptoms, testing or treatment, ask a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Exostosis of Jaw comes down to these specific, well-studied positions — not a diagnosis. 25 positions are linked to this page; the ones this page's own text discusses are shown first.
Databases, guidelines and references
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. MyGeneLog™. https://www.mygenelog.com/conditions/exostosis-of-jaw
Exostosis of Jaw is the condition the GWAS Catalog files under "Exostosis of jaw (PheCode 526.8)". This page does not define it in its own words; it lists what genome-wide studies have reported: 17 positions from 1 study, with each study's sample and citation.
Genes play a part: 17 positions have been linked to it, the largest study recording 665 cases and 569,882 controls (African American or Afro-Caribbean ancestry, European ancestry). But each is a common variant of small effect, and a link found across a population does not cause the condition in any one person.
The catalogue maps the positions to 17 genes: PCDH9, SDK1, DENND1B, LINC02997, PLB1, PWRN1, PRKN, MIR1202, AOX2P, FTH1P7, LINC02873, KCTD8, MFF, LINC02819, DDC, LINC03019, CRYBG1. These are where the positions sit, not proof of how they act.
No. Each variant shifts the odds only slightly, and only on average across many people. No guideline predicts Exostosis of Jaw from a genotype; a clinician diagnoses it.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.