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Immature fraction of reticulocytes

EIF2B5 · rs6443959

Where this position leads

Condition: Blood Cell Counts

rs6443959 Condition: Blood Cell Counts Blood Cell Counts Condition rs6443959 rs6443959 EIF2B5

What the study found

Who was studied 170,548 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0245 higher (95% confidence interval 0.016-0.033); p = 3 × 10−9.

How common The T allele had a frequency of about 75% in the people studied.

Where it sits Chromosome 3, band 3q27.1 — between genes, 2.2 kb from PSMD2.

What each result means

G/G Published research associates this genotype with typical/baseline likelihood of Immature fraction of reticulocytes — no copies of the reported risk allele.
G/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Immature fraction of reticulocytes.
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Immature fraction of reticulocytes compared to the general population.
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 rs6443959

What is rs6443959?

rs6443959 is a single position in the genome, in or near the EIF2B5 gene. Published research associates it with immature fraction of reticulocytes. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs6443959 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 rs6443959 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 rs6443959 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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