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Total cerebellar volume

PAPPA · rs1160248

What the study found

Who was studied 27,486 European ancestry individuals; replicated in 3,906 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 743 higher (95% confidence interval 564.95-920.48); p = 3 × 10−16.

Where it sits Chromosome 9, band 9q33.1 — in an intron of PAPPA.

What each result means

C/C Two copies of the version the research linked to Total cerebellar volume. 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 Total cerebellar volume. That is a smaller link than two copies.
T/T No copy of the version the research linked to Total cerebellar volume. This is the starting point the study compared everyone against.
Source

Questions about rs1160248

What is rs1160248?

rs1160248 is a single position in the genome, in or near the PAPPA gene. Published research associates it with total cerebellar volume. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs1160248 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 rs1160248 come from?

GWAS Catalog, Communications biology 2022, PMID:35842455. 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.

Total cerebellar volume (rs1160248). MyGeneLog™. https://www.mygenelog.com/variants/rs1160248

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