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Cerebellar grey matter morphology (MOSTest)

MEF2C · rs17560451

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−50, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 27,302 European ancestry individuals; replicated in 11,264 European ancestry individuals.

The effect The reported allele is C; the catalogue records no effect size ; p = 2 × 10−50.

Where it sits Chromosome 5, band 5q14.3 — in an intron of MEF2C-AS1.

How common each version is

CT
Korean KRGDB
C 23.4% · T 76.6%
Korean Korea4K
C 23.4% · T 76.6%
Japanese ToMMo
C 30.0% · T 70.0%
Vietnamese
C 16.4% · T 83.6%
World gnomAD
C 18.6% · T 81.4%
World 1000 Genomes
C 16.2% · T 83.8%
World TOPMed
C 17.7% · T 82.3%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

C/C Two copies of the version the research linked to Cerebellar grey matter morphology (MOSTest). 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 Cerebellar grey matter morphology (MOSTest). That is a smaller link than two copies.
T/T No copy of the version the research linked to Cerebellar grey matter morphology (MOSTest). This is the starting point the study compared everyone against.
Source

Questions about rs17560451

What is rs17560451?

rs17560451 is a single position in the genome, in or near the MEF2C gene. Published research associates it with cerebellar grey matter morphology (mostest). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs17560451 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 rs17560451 come from?

GWAS Catalog, Communications biology 2026, PMID:41703085. 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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Cerebellar grey matter morphology (MOSTest) (rs17560451). MyGeneLog™. https://www.mygenelog.com/variants/rs17560451

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