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Reticulocyte count

SPHK1 · rs2247856

Where this position leads

Condition: Blood Cell Counts

rs2247856 Condition: Blood Cell Counts Blood Cell Counts Condition rs2247856 rs2247856 SPHK1

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of 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 Reticulocyte count.
G/G Published research associates this genotype with typical/baseline likelihood of 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 rs2247856

What is rs2247856?

rs2247856 is a single position in the genome, in or near the SPHK1 gene. Published research associates it with 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 rs2247856 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 rs2247856 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 rs2247856 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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