Sensitive

Diseases of spleen (PheCode 289.5)

CNTN5 · rs534159225

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 304 African American or Afro-Caribbean cases, 121,240 African American or Afro-Caribbean controls, 1,598 European ancestry cases, 447,807 European ancestry controls.

The effect Each copy of the T allele shifted the measure 2.56 lower (95% confidence interval 2.52-2.6); p = 4 × 10−11.

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

Where it sits Chromosome 11, band 11q22.1 — in an intron of CNTN5.

What each result means

C/C No copy of the version the research linked to Diseases of spleen (PheCode 289.5). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Diseases of spleen (PheCode 289.5). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Diseases of spleen (PheCode 289.5). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs534159225

What is rs534159225?

rs534159225 is a single position in the genome, in or near the CNTN5 gene. Published research associates it with diseases of spleen (phecode 289.5). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs534159225 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 rs534159225 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

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Diseases of spleen (PheCode 289.5) (rs534159225). MyGeneLog™. https://www.mygenelog.com/variants/rs534159225

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