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Open-angle glaucoma (PheCode 365.1)

AFAP1 · rs13140108

Where this position leads

Condition: Glaucoma

rs13140108 Condition: Glaucoma Glaucoma Condition rs13140108 rs13140108 AFAP1

What the study found

Who was studied 30,309 African American or Afro-Caribbean cases, 84,722 African American or Afro-Caribbean controls, 8,523 Hispanic or Latin American cases, 48,779 Hispanic or Latin American controls, 1,127 East Asian ancestry cases, 5,402 East Asian ancestry controls, 56,207 European ancestry cases, 377,826 European ancestry controls.

The effect Each copy of the C allele shifted the measure 0.0666 higher (95% confidence interval 0.054-0.079); p = 4 × 10−28.

How common The C allele had a frequency of about 51% in the people studied.

Where it sits Chromosome 4, band 4p16.1 — in an intron of AFAP1.

What each result means

C/C Two copies of the version the research linked to Open-angle glaucoma (PheCode 365.1). 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 Open-angle glaucoma (PheCode 365.1). That is a smaller link than two copies.
T/T No copy of the version the research linked to Open-angle glaucoma (PheCode 365.1). 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 rs13140108

What is rs13140108?

rs13140108 is a single position in the genome, in or near the AFAP1 gene. Published research associates it with open-angle glaucoma (phecode 365.1). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs13140108 linked to?

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

Does having rs13140108 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 rs13140108 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

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Open-angle glaucoma (PheCode 365.1) (rs13140108). MyGeneLog™. https://www.mygenelog.com/variants/rs13140108

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