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Type 1 diabetes with ophthalmic manifestations (PheCode 250.13)

L3MBTL4 · rs537938132

Where this position leads

Condition: Type 1 Diabetes

rs537938132 Condition: Type 1 Diabetes Type 1 Diabetes Condition rs537938132 rs537938132 L3MBTL4

What the study found

Who was studied 738 African American or Afro-Caribbean cases, 119,755 African American or Afro-Caribbean controls, 2,517 European ancestry cases, 445,450 European ancestry controls, 314 Hispanic or Latin American cases, 59,045 Hispanic or Latin American controls.

The effect Each copy of the A allele shifted the measure 2.34 lower (95% confidence interval 2.29-2.39); p = 4 × 10−11.

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

Where it sits Chromosome 18, band 18p11.31 — in an intron of L3MBTL4.

What each result means

A/A Two copies of the version the research linked to Type 1 diabetes with ophthalmic manifestations (PheCode 250.13). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/C One copy of the version the research linked to Type 1 diabetes with ophthalmic manifestations (PheCode 250.13). That is a smaller link than two copies.
C/C No copy of the version the research linked to Type 1 diabetes with ophthalmic manifestations (PheCode 250.13). 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 rs537938132

What is rs537938132?

rs537938132 is a single position in the genome, in or near the L3MBTL4 gene. Published research associates it with type 1 diabetes with ophthalmic manifestations (phecode 250.13). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs537938132 linked to?

On MyGeneLog this position is linked to Type 1 Diabetes. The research behind each link, and its sources, are set out on that condition page.

Does having rs537938132 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 rs537938132 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.

Type 1 diabetes with ophthalmic manifestations (PheCode 250.13) (rs537938132). MyGeneLog™. https://www.mygenelog.com/variants/rs537938132

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