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Facial morphology

CASC17 · rs9916542

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−7, 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 10,115 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.095 higher; p = 5 × 10−8.

Where it sits Chromosome 17, band 17q24.3 — between genes, 40.8 kb from CASC17.

What each result means

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

Questions about rs9916542

What is rs9916542?

rs9916542 is a single position in the genome, in or near the CASC17 gene. Published research associates it with facial morphology. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs9916542 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 rs9916542 come from?

GWAS Catalog, eLife 2019, PMID:31763980. 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.

Facial morphology (rs9916542). MyGeneLog™. https://www.mygenelog.com/variants/rs9916542

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