Gene Knowledge Graph
UTC
Standard

Ankylosis of joint (PheCode 741.1)

near PSMC1P12 · rs531215209

Where this position leads

Condition: Ankylosis of Joint

rs531215209 Condition: Ankylosis of Joint Ankylosis of Joint Condition rs531215209 rs531215209 near PSMC1P12

What the study found

Who was studied 261 African American or Afro-Caribbean cases, 121,279 African American or Afro-Caribbean controls, 568 European ancestry cases, 449,644 European ancestry controls.

The effect Each copy of the C allele shifted the measure 4.07 lower (95% confidence interval 4.05-4.08); p = 2 × 10−11.

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

Where it sits Chromosome 1, band 1p12 — between genes, 127.2 kb from PSMC1P12.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Ankylosis of joint (PheCode 741.1) compared to the general population.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Ankylosis of joint (PheCode 741.1).
T/T Published research associates this genotype with typical/baseline likelihood of Ankylosis of joint (PheCode 741.1) — no copies of the reported risk allele.
Source
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Verma A, Huffman JE, Rodriguez A, Conery M, Liu M, Ho YL, Kim Y, Heise DA, Guare L, Panickan VA, Garcon H, Linares F
and 59 more — show all
Costa L, Goethert I, Tipton R, Honerlaw J, Davies L, Whitbourne S, Cohen J, Posner DC, Sangar R, Murray M, Wang X, Dochtermann DR, Devineni P, Shi Y, Nandi TN, Assimes TL, Brunette CA, Carroll RJ, Clifford R, Duvall S, Gelernter J, Hung A, Iyengar SK, Joseph J, Kember R, Kranzler H, Kripke CM, Levey D, Luoh SW, Merritt VC, Overstreet C, Deak JD, Grant SFA, Polimanti R, Roussos P, Shakt G, Sun YV, Tsao N, Venkatesh S, Voloudakis G, Justice A, Begoli E, Ramoni R, Tourassi G, Pyarajan S, Tsao P, O'Donnell CJ, Muralidhar S, Moser J, Casas JP, Bick AG, Zhou W, Cai T, Voight BF, Cho K, Gaziano JM, Madduri RK, Damrauer S, Liao KP
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access

Questions about rs531215209

What is rs531215209?

rs531215209 is a single position in the genome, in or near the near PSMC1P12 gene. Published research associates it with ankylosis of joint (phecode 741.1). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs531215209 linked to?

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

Does having rs531215209 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 rs531215209 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.

Ankylosis of joint (PheCode 741.1) (rs531215209). MyGeneLog™. https://www.mygenelog.com/variants/rs531215209

← See all variants