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Type 2 diabetes with ketoacidosis (PheCode 250.21)

PENK-AS1 · rs183360430

Where this position leads

Condition: Type 2 Diabetes

rs183360430 Condition: Type 2 Diabetes Type 2 Diabetes Condition rs183360430 rs183360430 PENK-AS1

What the study found

Who was studied 893 African American or Afro-Caribbean cases, 120,189 African American or Afro-Caribbean controls, 1,202 European ancestry cases, 448,916 European ancestry controls, 269 Hispanic or Latin American cases, 59,377 Hispanic or Latin American controls.

The effect Each copy of the T allele shifted the measure 2.51 lower (95% confidence interval 2.47-2.55); p = 5 × 10−12.

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

Where it sits Chromosome 8, band 8q12.1 — in an intron of PENK-AS1.

What each result means

C/C No copy of the version the research linked to Type 2 diabetes with ketoacidosis (PheCode 250.21). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Type 2 diabetes with ketoacidosis (PheCode 250.21). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Type 2 diabetes with ketoacidosis (PheCode 250.21). 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 rs183360430

What is rs183360430?

rs183360430 is a single position in the genome, in or near the PENK-AS1 gene. Published research associates it with type 2 diabetes with ketoacidosis (phecode 250.21). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs183360430 linked to?

On MyGeneLog this position is linked to Type 2 Diabetes. The research behind each link, and its sources, are set out on that condition page.

Does having rs183360430 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 rs183360430 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 2 diabetes with ketoacidosis (PheCode 250.21) (rs183360430). MyGeneLog™. https://www.mygenelog.com/variants/rs183360430

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