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High light scatter reticulocyte count

near NOTCH4 · rs507778

Where this position leads

Condition: Blood Cell Counts

rs507778 Condition: Blood Cell Counts Blood Cell Counts Condition rs507778 rs507778 near NOTCH4

What the study found

Who was studied 170,761 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0431 lower (95% confidence interval 0.036-0.051); p = 2 × 10−29.

How common The T allele had a frequency of about 33% in the people studied.

Where it sits Chromosome 6, band 6p21.32 — between genes, 12.6 kb from TSBP1-AS1.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of High light scatter reticulocyte count — 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 High light scatter reticulocyte count.
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of High light scatter reticulocyte 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 rs507778

What is rs507778?

rs507778 is a single position in the genome, in or near the near NOTCH4 gene. Published research associates it with high light scatter reticulocyte 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 rs507778 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 rs507778 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 rs507778 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.

High light scatter reticulocyte count (rs507778). MyGeneLog™. https://www.mygenelog.com/variants/rs507778

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