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Angiodysplasia of intestine (without mention of hemorrhage) (PheCode 556.11)

near CYCSP42 · rs540246290

Where this position leads

Condition: Angiodysplasia of Intestine (without mention of hemorrhage)

rs540246290 Condition: Angiodysplasia of Intestine (without mention of hemorrhage) Angiodysplasia of Intestine (withou… Condition rs540246290 rs540246290 near CYCSP42

What the study found

Who was studied 238 African American or Afro-Caribbean cases, 121,139 African American or Afro-Caribbean controls, 673 European ancestry cases, 448,666 European ancestry controls.

The effect Each copy of the C allele shifted the measure 3.38 lower (95% confidence interval 3.36-3.4); p = 1 × 10−11.

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

Where it sits Chromosome 21, band 21q21.1 — between genes, 31.2 kb from CYCSP42.

What each result means

C/C Two copies of the version the research linked to Angiodysplasia of intestine (without mention of hemorrhage) (PheCode 556.11). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Angiodysplasia of intestine (without mention of hemorrhage) (PheCode 556.11). That is a smaller link than two copies.
T/T No copy of the version the research linked to Angiodysplasia of intestine (without mention of hemorrhage) (PheCode 556.11). 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 rs540246290

What is rs540246290?

rs540246290 is a single position in the genome, in or near the near CYCSP42 gene. Published research associates it with angiodysplasia of intestine (without mention of hemorrhage) (phecode 556.11). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs540246290 linked to?

On MyGeneLog this position is linked to Angiodysplasia of Intestine (without mention of hemorrhage). The research behind each link, and its sources, are set out on that condition page.

Does having rs540246290 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 rs540246290 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.

Angiodysplasia of intestine (without mention of hemorrhage) (PheCode 556.11) (rs540246290). MyGeneLog™. https://www.mygenelog.com/variants/rs540246290

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