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Mean platelet volume

MEF2C · rs114694170

Where this position leads

Condition: Blood Cell Counts

rs114694170 Condition: Blood Cell Counts Blood Cell Counts Condition rs114694170 rs114694170 MEF2C

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 rs114694170

What is rs114694170?

rs114694170 is a single position in the genome, in or near the MEF2C 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 rs114694170 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 rs114694170 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 rs114694170 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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