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Lymphocyte count

ARVCF · rs2073748

Where this position leads

Condition: Blood Cell Counts

rs2073748 Condition: Blood Cell Counts Blood Cell Counts Condition rs2073748 rs2073748 ARVCF

What the study found

Who was studied 171,643 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0244 higher (95% confidence interval 0.017-0.032); p = 1 × 10−10.

How common The A allele had a frequency of about 35% in the people studied.

Where it sits Chromosome 22, band 22q11.21 — a missense change in ARVCF.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Lymphocyte 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 Lymphocyte count.
G/G Published research associates this genotype with typical/baseline likelihood of Lymphocyte 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 rs2073748

What is rs2073748?

rs2073748 is a single position in the genome, in or near the ARVCF gene. Published research associates it with lymphocyte 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 rs2073748 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 rs2073748 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 rs2073748 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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