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Progressive supranuclear palsy

RUNX2 · rs12197948

What the study found

Who was studied 2,779 European ancestry cases, 5,584 European ancestry controls.

The effect Each copy of the G allele carried 1.33 times the odds of Progressive supranuclear palsy (95% confidence interval 1.25-1.41); p = 5 × 10−12.

How common The G allele had a frequency of about 64% in the people studied.

Where it sits Chromosome 6, band 6p21.1 — in an intron of RUNX2.

What each result means

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

Questions about rs12197948

What is rs12197948?

rs12197948 is a single position in the genome, in or near the RUNX2 gene. Published research associates it with progressive supranuclear palsy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs12197948 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 rs12197948 come from?

GWAS Catalog, Nature communications 2024, PMID:39251599. 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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Progressive supranuclear palsy (rs12197948). MyGeneLog™. https://www.mygenelog.com/variants/rs12197948

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