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Type 1 diabetes with ketoacidosis (PheCode 250.11)

SCNN1B · rs191563060

Where this position leads

Condition: Type 1 Diabetes

rs191563060 Condition: Type 1 Diabetes Type 1 Diabetes Condition rs191563060 rs191563060 SCNN1B

What the study found

Who was studied 215 African American or Afro-Caribbean cases, 121,380 African American or Afro-Caribbean controls, 530 European ancestry cases, 450,407 European ancestry controls.

The effect Each copy of the G allele shifted the measure 3.06 lower (95% confidence interval 3.04-3.09); p = 1 × 10−12.

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

Where it sits Chromosome 16, band 16p12.2 — in an intron of SCNN1B.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Type 1 diabetes with ketoacidosis (PheCode 250.11) — no copies of the reported risk allele.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Type 1 diabetes with ketoacidosis (PheCode 250.11).
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Type 1 diabetes with ketoacidosis (PheCode 250.11) compared to the general population.
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 rs191563060

What is rs191563060?

rs191563060 is a single position in the genome, in or near the SCNN1B gene. Published research associates it with type 1 diabetes with ketoacidosis (phecode 250.11). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs191563060 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 rs191563060 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 rs191563060 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 ketoacidosis (PheCode 250.11) (rs191563060). MyGeneLog™. https://www.mygenelog.com/variants/rs191563060

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