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Diverticulosis and diverticulitis (PheCode 562)

CALCB · rs12294208

Where this position leads

Condition: Diverticular Disease

rs12294208 Condition: Diverticular Disease Diverticular Disease Condition rs12294208 rs12294208 CALCB

What the study found

Who was studied 11,659 African American or Afro-Caribbean cases, 96,915 African American or Afro-Caribbean controls, 5,978 Hispanic or Latin American cases, 47,934 Hispanic or Latin American controls, 294 East Asian ancestry cases, 6,163 East Asian ancestry controls, 60,821 European ancestry cases, 330,833 European ancestry controls.

The effect Each copy of the T allele shifted the measure 0.0767 lower (95% confidence interval 0.064-0.089); p = 1 × 10−28.

How common The T allele had a frequency of about 72% in the people studied.

Where it sits Chromosome 11, band 11p15.2 — inside CALCB.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Diverticulosis and diverticulitis (PheCode 562) — no copies of the reported risk allele.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Diverticulosis and diverticulitis (PheCode 562).
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Diverticulosis and diverticulitis (PheCode 562) 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 rs12294208

What is rs12294208?

rs12294208 is a single position in the genome, in or near the CALCB gene. Published research associates it with diverticulosis and diverticulitis (phecode 562). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12294208 linked to?

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

Does having rs12294208 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 rs12294208 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.

Diverticulosis and diverticulitis (PheCode 562) (rs12294208). MyGeneLog™. https://www.mygenelog.com/variants/rs12294208

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