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High light scatter reticulocyte percentage of red cells

RMND5A · rs1193

Where this position leads

Condition: Blood Cell Counts

rs1193 Condition: Blood Cell Counts Blood Cell Counts Condition rs1193 rs1193 RMND5A

What the study found

Who was studied 170,763 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0304 (percentage) higher (95% confidence interval 0.023-0.038); p = 5 × 10−15.

How common The T allele had a frequency of about 68% in the people studied.

Where it sits Chromosome 2, band 2p11.2 — in the 3′ untranslated region of RMND5A.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of High light scatter reticulocyte percentage 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 High light scatter reticulocyte percentage of red cells.
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of High light scatter reticulocyte percentage of red cells compared to the general population.
Source

Questions about rs1193

What is rs1193?

rs1193 is a single position in the genome, in or near the RMND5A gene. Published research associates it with high light scatter reticulocyte percentage 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 rs1193 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 rs1193 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 rs1193 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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High light scatter reticulocyte percentage of red cells (rs1193). MyGeneLog™. https://www.mygenelog.com/variants/rs1193

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