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Cancer of major salivary glands (PheCode 145.3)

PPFIA2-AS2 · rs529003548

Where this position leads

Condition: Cancer of Major Salivary Glands

rs529003548 Condition: Cancer of Major Salivary Glands Cancer of Major Salivary Glands Condition rs529003548 rs529003548 PPFIA2-AS2

What the study found

Who was studied 266 African American or Afro-Caribbean cases, 121,540 African American or Afro-Caribbean controls, 864 European ancestry cases, 450,063 European ancestry controls.

The effect Each copy of the C allele shifted the measure 3.18 lower (95% confidence interval 3.16-3.2); p = 1 × 10−11.

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

Where it sits Chromosome 12, band 12q21.31 — in an intron of PPFIA2-AS2.

What each result means

C/C Two copies of the version the research linked to Cancer of major salivary glands (PheCode 145.3). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/G One copy of the version the research linked to Cancer of major salivary glands (PheCode 145.3). That is a smaller link than two copies.
G/G No copy of the version the research linked to Cancer of major salivary glands (PheCode 145.3). This is the starting point the study compared everyone against.
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 rs529003548

What is rs529003548?

rs529003548 is a single position in the genome, in or near the PPFIA2-AS2 gene. Published research associates it with cancer of major salivary glands (phecode 145.3). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs529003548 linked to?

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

Does having rs529003548 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 rs529003548 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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Cancer of major salivary glands (PheCode 145.3) (rs529003548). MyGeneLog™. https://www.mygenelog.com/variants/rs529003548

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