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Cholelithiasis with acute cholecystitis (PheCode 574.11)

near EHF · rs190283052

Where this position leads

Condition: Cholelithiasis with Acute Cholecystitis

rs190283052 Condition: Cholelithiasis with Acute Cholecystitis Cholelithiasis with Acute Cholecystitis Condition rs190283052 rs190283052 near EHF

What the study found

Who was studied 294 African American or Afro-Caribbean cases, 121,186 African American or Afro-Caribbean controls, 1,725 European ancestry cases, 446,800 European ancestry controls, 308 Hispanic or Latin American cases, 59,145 Hispanic or Latin American controls.

The effect Each copy of the G allele shifted the measure 2.7 lower (95% confidence interval 2.67-2.74); p = 2 × 10−12.

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

Where it sits Chromosome 11, band 11p13 — between genes, 1.8 kb from EHF.

What each result means

A/A No copy of the version the research linked to Cholelithiasis with acute cholecystitis (PheCode 574.11). This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Cholelithiasis with acute cholecystitis (PheCode 574.11). That is a smaller link than two copies.
G/G Two copies of the version the research linked to Cholelithiasis with acute cholecystitis (PheCode 574.11). 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 rs190283052

What is rs190283052?

rs190283052 is a single position in the genome, in or near the near EHF gene. Published research associates it with cholelithiasis with acute cholecystitis (phecode 574.11). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs190283052 linked to?

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

Does having rs190283052 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 rs190283052 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.

Cholelithiasis with acute cholecystitis (PheCode 574.11) (rs190283052). MyGeneLog™. https://www.mygenelog.com/variants/rs190283052

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