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Red blood cell count

SPPL2C · rs2106786

Where this position leads

Condition: Blood Cell Counts

rs2106786 Condition: Blood Cell Counts Blood Cell Counts Condition rs2106786 rs2106786 SPPL2C

What the study found

Who was studied 172,952 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.0537 higher (95% confidence interval 0.045-0.062); p = 3 × 10−36.

How common The G allele had a frequency of about 22% in the people studied.

Where it sits Chromosome 17, band 17q21.31 — in an intron of MAPT-AS1.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Red blood cell count — no copies of the reported risk allele.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Red blood cell count.
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Red blood cell count 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 rs2106786

What is rs2106786?

rs2106786 is a single position in the genome, in or near the SPPL2C gene. Published research associates it with red blood cell 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 rs2106786 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 rs2106786 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 rs2106786 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

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Red blood cell count (rs2106786). MyGeneLog™. https://www.mygenelog.com/variants/rs2106786

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