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Neutrophil percentage of white cells

SPTA1 · rs2518491

Where this position leads

Condition: Blood Cell Counts

rs2518491 Condition: Blood Cell Counts Blood Cell Counts Condition rs2518491 rs2518491 SPTA1

What the study found

Who was studied 171,542 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0265 lower (95% confidence interval 0.019-0.034); p = 4 × 10−11.

How common The T allele had a frequency of about 27% in the people studied.

Where it sits Chromosome 1, band 1q23.1 — in an intron of SPTA1.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Neutrophil percentage of white cells — no copies of the reported risk allele.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Neutrophil percentage of white cells.
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Neutrophil percentage of white cells 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 rs2518491

What is rs2518491?

rs2518491 is a single position in the genome, in or near the SPTA1 gene. Published research associates it with neutrophil percentage of white cells. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2518491 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 rs2518491 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 rs2518491 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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