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High light scatter reticulocyte count

KEL · rs8176059

Where this position leads

Condition: Blood Cell Counts

rs8176059 Condition: Blood Cell Counts Blood Cell Counts Condition rs8176059 rs8176059 KEL

What the study found

Who was studied 170,761 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.1 higher (95% confidence interval 0.067-0.133); p = 4 × 10−9.

How common The A allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 7, band 7q34 — a missense change in KEL.

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 rs8176059

What is rs8176059?

rs8176059 is a single position in the genome, in or near the KEL 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 rs8176059 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 rs8176059 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 rs8176059 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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High light scatter reticulocyte count (rs8176059). MyGeneLog™. https://www.mygenelog.com/variants/rs8176059

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