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High light scatter reticulocyte count

near EBF1 · rs1650507

Where this position leads

Condition: Blood Cell Counts

rs1650507 Condition: Blood Cell Counts Blood Cell Counts Condition rs1650507 rs1650507 near EBF1

What the study found

Who was studied 170,761 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0251 higher (95% confidence interval 0.017-0.034); p = 8 × 10−9.

How common The A allele had a frequency of about 22% in the people studied.

Where it sits Chromosome 5, band 5q33.3 — between genes, 88.6 kb from LINC02227.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of High light scatter reticulocyte count compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with High light scatter reticulocyte count.
G/G Published research associates this genotype with typical/baseline likelihood of High light scatter reticulocyte count — 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 rs1650507

What is rs1650507?

rs1650507 is a single position in the genome, in or near the near EBF1 gene. Published research associates it with high light scatter reticulocyte count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1650507 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 rs1650507 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 rs1650507 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.

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