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Mean corpuscular hemoglobin

NKX2-3 · rs4590800

Where this position leads

Condition: Blood Cell Counts

rs4590800 Condition: Blood Cell Counts Blood Cell Counts Condition rs4590800 rs4590800 NKX2-3

What the study found

Who was studied 172,332 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0332 higher (95% confidence interval 0.025-0.041); p = 3 × 10−16.

How common The A allele had a frequency of about 26% in the people studied.

Where it sits Chromosome 10, band 10q24.2 — between genes, 4.8 kb from NKX2-3.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Mean corpuscular hemoglobin compared to the general population.
A/C Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Mean corpuscular hemoglobin.
C/C Published research associates this genotype with typical/baseline likelihood of Mean corpuscular hemoglobin — no copies of the reported risk allele.
Source
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL, Mead D, Bouman H, Riveros-Mckay F, Kostadima MA, Lambourne JJ, Sivapalaratnam S
and 62 more — show all
Downes K, Kundu K, Bomba L, Berentsen K, Bradley JR, Daugherty LC, Delaneau O, Freson K, Garner SF, Grassi L, Guerrero J, Haimel M, Janssen-Megens EM, Kaan A, Kamat M, Kim B, Mandoli A, Marchini J, Martens JHA, Meacham S, Megy K, O'Connell J, Petersen R, Sharifi N, Sheard SM, Staley JR, Tuna S, van der Ent M, Walter K, Wang SY, Wheeler E, Wilder SP, Iotchkova V, Moore C, Sambrook J, Stunnenberg HG, Di Angelantonio E, Kaptoge S, Kuijpers TW, Carrillo-de-Santa-Pau E, Juan D, Rico D, Valencia A, Chen L, Ge B, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yang Y, Guigo R, Beck S, Paul DS, Pastinen T, Bujold D, Bourque G, Frontini M, Danesh J, Roberts DJ, Ouwehand WH, Butterworth AS, Soranzo N
Cell · 2016 · PMID 27863252 · open access

Questions about rs4590800

What is rs4590800?

rs4590800 is a single position in the genome, in or near the NKX2-3 gene. Published research associates it with mean corpuscular hemoglobin. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4590800 linked to?

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

Does having rs4590800 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 rs4590800 come from?

GWAS Catalog, Cell 2016, PMID:27863252. 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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Mean corpuscular hemoglobin (rs4590800). MyGeneLog™. https://www.mygenelog.com/variants/rs4590800

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