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Hemangioma of skin and subcutaneous tissue (PheCode 228.1)

CTNNA2 · rs186995769

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−10, 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 281 Hispanic or Latin American cases, 58,651 Hispanic or Latin American controls, 6,342 European ancestry cases, 429,630 European ancestry controls.

The effect Each copy of the T allele shifted the measure 2.18 lower (95% confidence interval 2.13-2.23); p = 4 × 10−11.

How common The T allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 2, band 2p12 — in an intron of CTNNA2.

What each result means

C/C No copy of the version the research linked to Hemangioma of skin and subcutaneous tissue (PheCode 228.1). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Hemangioma of skin and subcutaneous tissue (PheCode 228.1). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Hemangioma of skin and subcutaneous tissue (PheCode 228.1). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs186995769

What is rs186995769?

rs186995769 is a single position in the genome, in or near the CTNNA2 gene. Published research associates it with hemangioma of skin and subcutaneous tissue (phecode 228.1). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs186995769 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 rs186995769 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. 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.

Hemangioma of skin and subcutaneous tissue (PheCode 228.1) (rs186995769). MyGeneLog™. https://www.mygenelog.com/variants/rs186995769

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