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Pyruvate levels in blood donors

FLNA · rs116703563

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 1,542 African American or Afro-Caribbean individuals, 1,602 Asian ancestry individuals, 7,037 European ancestry individuals, 1,153 Hispanic or Latin American individuals.

The effect Each copy of the T allele shifted the measure 0.402 lower (95% confidence interval 0.34-0.46); p = 2 × 10⁻³⁸.

Where it sits Chromosome X, band Xq28 — in an intron of FLNA.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Pyruvate levels in blood donors — no copies of the reported risk allele.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Pyruvate levels in blood donors.

T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Pyruvate levels in blood donors compared to the general population.

Source

Biological and genetic determinants of glycolysis: Phosphofructokinase isoforms boost energy status of stored red blood cells and transfusion outcomes

Nemkov T, Stephenson D, Earley EJ, Keele GR, Hay A, Key A, Haiman ZB, Erickson C, Dzieciatkowska M, Reisz JA, Moore A, Stone M

and 14 more — show all

Deng X, Kleinman S, Spitalnik SL, Hod EA, Hudson KE, Hansen KC, Palsson BO, Churchill GA, Roubinian N, Norris PJ, Busch MP, Zimring JC, Page GP, D'Alessandro A

Cell metabolism · 2024 · PMID 38964323

Questions about rs116703563

What is rs116703563?

rs116703563 is a single position in the genome, in or near the FLNA gene. Published research associates it with pyruvate levels in blood donors. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs116703563 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 rs116703563 come from?

GWAS Catalog, Cell metabolism 2024, PMID:38964323. 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.

Pyruvate levels in blood donors (rs116703563). MyGeneLog™. https://www.mygenelog.com/variants/rs116703563

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