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Mean corpuscular volume

SPECC1 · rs56142708

Where this position leads

Condition: Blood Cell Counts

rs56142708 Condition: Blood Cell Counts Blood Cell Counts Condition rs56142708 rs56142708 SPECC1

What the study found

Who was studied 362,595 British ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.19 % lower (95% confidence interval -0.21--0.17); p = 3 × 10−65.

How common The A allele had a frequency of about 48% in the people studied.

Where it sits Chromosome 17, band 17p11.2 — in an intron of SPECC1.

What each result means

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

Questions about rs56142708

What is rs56142708?

rs56142708 is a single position in the genome, in or near the SPECC1 gene. Published research associates it with mean corpuscular volume. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs56142708 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 rs56142708 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 rs56142708 come from?

GWAS Catalog, Human molecular genetics 2021, PMID:34104963. 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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Mean corpuscular volume (rs56142708). MyGeneLog™. https://www.mygenelog.com/variants/rs56142708

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