Gene Knowledge Graph
UTC
Standard

Anal and rectal polyp (PheCode 565.1)

near RPA2P2 · rs192216216

Where this position leads

Condition: Anal and Rectal Polyp

rs192216216 Condition: Anal and Rectal Polyp Anal and Rectal Polyp Condition rs192216216 rs192216216 near RPA2P2

What the study found

Who was studied 749 African American or Afro-Caribbean cases, 117,582 African American or Afro-Caribbean controls, 3,409 European ancestry cases, 432,437 European ancestry controls, 608 Hispanic or Latin American cases, 57,609 Hispanic or Latin American controls.

The effect Each copy of the T allele shifted the measure 5.22 higher (95% confidence interval -105.0692-115.5092); p = 2 × 10−29.

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

Where it sits Chromosome 10, band 10q23.1 — between genes, 75.1 kb from RPA2P2.

What each result means

C/C No copy of the version the research linked to Anal and rectal polyp (PheCode 565.1). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Anal and rectal polyp (PheCode 565.1). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Anal and rectal polyp (PheCode 565.1). That is the strongest link of the three results. A link in a study is not a diagnosis.
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 rs192216216

What is rs192216216?

rs192216216 is a single position in the genome, in or near the near RPA2P2 gene. Published research associates it with anal and rectal polyp (phecode 565.1). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs192216216 linked to?

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

Does having rs192216216 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 rs192216216 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.

Anal and rectal polyp (PheCode 565.1) (rs192216216). MyGeneLog™. https://www.mygenelog.com/variants/rs192216216

← See all variants