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Superficial keratitis (PheCode 370.2)

STK11 · rs183640372

Where this position leads

Condition: Superficial Keratitis

rs183640372 Condition: Superficial Keratitis Superficial Keratitis Condition rs183640372 rs183640372 STK11

What the study found

Who was studied 517 African American or Afro-Caribbean cases, 119,668 African American or Afro-Caribbean controls, 1,789 European ancestry cases, 444,434 European ancestry controls, 222 Hispanic or Latin American cases, 59,037 Hispanic or Latin American controls.

The effect Each copy of the C allele shifted the measure 3.19 lower (95% confidence interval 3.17-3.22); p = 3 × 10−13.

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

Where it sits Chromosome 19, band 19p13.3 — in an intron of STK11.

What each result means

C/C Two copies of the version the research linked to Superficial keratitis (PheCode 370.2). 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 Superficial keratitis (PheCode 370.2). That is a smaller link than two copies.
T/T No copy of the version the research linked to Superficial keratitis (PheCode 370.2). 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 rs183640372

What is rs183640372?

rs183640372 is a single position in the genome, in or near the STK11 gene. Published research associates it with superficial keratitis (phecode 370.2). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs183640372 linked to?

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

Does having rs183640372 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 rs183640372 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.

Superficial keratitis (PheCode 370.2) (rs183640372). MyGeneLog™. https://www.mygenelog.com/variants/rs183640372

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