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Mean platelet volume

RAB8A · rs2113036

Where this position leads

Condition: Blood Cell Counts

rs2113036 Condition: Blood Cell Counts Blood Cell Counts Condition rs2113036 rs2113036 RAB8A

What the study found

Who was studied 164,454 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0434 higher (95% confidence interval 0.036-0.051); p = 1 × 10−28.

How common The C allele had a frequency of about 34% in the people studied.

Where it sits Chromosome 19, band 19p13.11 — between genes, 3.6 kb from TPM4.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Mean platelet volume compared to the general population.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Mean platelet volume.
T/T Published research associates this genotype with typical/baseline likelihood of Mean platelet volume — 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 rs2113036

What is rs2113036?

rs2113036 is a single position in the genome, in or near the RAB8A gene. Published research associates it with mean platelet volume. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2113036 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 rs2113036 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 rs2113036 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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