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Mean corpuscular hemoglobin

ELMSAN1 · rs144991697

Where this position leads

Condition: Blood Cell Counts

rs144991697 Condition: Blood Cell Counts Blood Cell Counts Condition rs144991697 rs144991697 ELMSAN1

What the study found

Who was studied 172,332 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.091 higher (95% confidence interval 0.068-0.114); p = 8 × 10−15.

How common The A allele had a frequency of about 2% in the people studied.

Where it sits Chromosome 14, band 14q24.3 — in an intron of MIDEAS.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Mean corpuscular hemoglobin compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Mean corpuscular hemoglobin.
G/G Published research associates this genotype with typical/baseline likelihood of Mean corpuscular hemoglobin — 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 rs144991697

What is rs144991697?

rs144991697 is a single position in the genome, in or near the ELMSAN1 gene. Published research associates it with mean corpuscular hemoglobin. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs144991697 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 rs144991697 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 rs144991697 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

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Mean corpuscular hemoglobin (rs144991697). MyGeneLog™. https://www.mygenelog.com/variants/rs144991697

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