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Hematocrit variance

EFNA5 · rs550563462

What the study found

Who was studied 408,111 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 4.74 higher (95% confidence interval 3.27-6.21); p = 3 × 10−10.

Where it sits Chromosome 5, band 5q21.3 — in an intron of EFNA5.

What each result means

C/C Two copies of the version the research linked to Hematocrit variance. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Hematocrit variance. That is a smaller link than two copies.
T/T No copy of the version the research linked to Hematocrit variance. This is the starting point the study compared everyone against.
Source

Questions about rs550563462

What is rs550563462?

rs550563462 is a single position in the genome, in or near the EFNA5 gene. Published research associates it with hematocrit variance. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs550563462 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 rs550563462 come from?

GWAS Catalog, Nature communications 2025, PMID:40335489. 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.

Hematocrit variance (rs550563462). MyGeneLog™. https://www.mygenelog.com/variants/rs550563462

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