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Diverticulosis and diverticulitis (PheCode 562)

near COL6A1 · rs8131409

Where this position leads

Condition: Diverticular Disease

rs8131409 Condition: Diverticular Disease Diverticular Disease Condition rs8131409 rs8131409 near COL6A1

What the study found

Who was studied 60,821 European ancestry cases, 330,833 European ancestry controls.

The effect Each copy of the C allele shifted the measure 0.0517 higher (95% confidence interval 0.038-0.065); p = 7 × 10−17.

How common The C allele had a frequency of about 67% in the people studied.

Where it sits Chromosome 21, band 21q22.3 — between genes, 17.9 kb from COL6A1.

What each result means

C/C 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.
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 with typical/baseline likelihood of Diverticulosis and diverticulitis (PheCode 562) — 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 rs8131409

What is rs8131409?

rs8131409 is a single position in the genome, in or near the near COL6A1 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 rs8131409 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 rs8131409 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 rs8131409 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) (rs8131409). MyGeneLog™. https://www.mygenelog.com/variants/rs8131409

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