Gene Knowledge Graph
UTC
Standard

Reticulocyte fraction of red cells

near ARHGAP42 · rs72996113

Where this position leads

Condition: Blood Cell Counts

rs72996113 Condition: Blood Cell Counts Blood Cell Counts Condition rs72996113 rs72996113 near ARHGAP42

What the study found

Who was studied 170,690 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0514 higher (95% confidence interval 0.04-0.063); p = 2 × 10−17.

How common The T allele had a frequency of about 10% in the people studied.

Where it sits Chromosome 11, band 11q22.1 — between genes, 59.7 kb from RN7SL222P.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Reticulocyte fraction of red 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 Reticulocyte fraction of red cells.
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Reticulocyte fraction of red 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 rs72996113

What is rs72996113?

rs72996113 is a single position in the genome, in or near the near ARHGAP42 gene. Published research associates it with reticulocyte fraction of red 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 rs72996113 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 rs72996113 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 rs72996113 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.

← See all variants