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Ankylosis of joint (PheCode 741.1)

SOX5 · rs183355251

Where this position leads

Condition: Ankylosis of Joint

rs183355251 Condition: Ankylosis of Joint Ankylosis of Joint Condition rs183355251 rs183355251 SOX5

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 3.11 lower (95% confidence interval 3.08-3.13); p = 3 × 10−11.

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

Where it sits Chromosome 12, band 12p12.1 — in an intron of SOX5.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Ankylosis of joint (PheCode 741.1) — no copies of the reported risk allele.
A/C Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Ankylosis of joint (PheCode 741.1).
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.
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 rs183355251

What is rs183355251?

rs183355251 is a single position in the genome, in or near the SOX5 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 rs183355251 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 rs183355251 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 rs183355251 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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Ankylosis of joint (PheCode 741.1) (rs183355251). MyGeneLog™. https://www.mygenelog.com/variants/rs183355251

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