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Red blood cell count

PHGDH · rs523395

Where this position leads

Condition: Blood Cell Counts

rs523395 Condition: Blood Cell Counts Blood Cell Counts Condition rs523395 rs523395 PHGDH

What the study found

Who was studied 172,952 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0219 higher (95% confidence interval 0.015-0.029); p = 2 × 10−9.

How common The C allele had a frequency of about 53% in the people studied.

Where it sits Chromosome 1, band 1p12 — in an intron of PHGDH.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Red blood cell count compared to the general population.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Red blood cell count.
T/T Published research associates this genotype with typical/baseline likelihood of Red blood cell count — no copies of the reported risk allele.
Source

Questions about rs523395

What is rs523395?

rs523395 is a single position in the genome, in or near the PHGDH gene. Published research associates it with red blood cell 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 rs523395 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 rs523395 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 rs523395 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.

Red blood cell count (rs523395). MyGeneLog™. https://www.mygenelog.com/variants/rs523395

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