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Other CNS infection and poliomyelitis (PheCode 324)

GHR · rs78990680

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−12, 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 263 African American or Afro-Caribbean cases, 121,441 African American or Afro-Caribbean controls, 1,042 European ancestry cases, 449,511 European ancestry controls.

The effect Each copy of the G allele shifted the measure 5.13 lower (95% confidence interval 5.13-5.14); p = 3 × 10−12.

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

Where it sits Chromosome 5, band 5p12 — in an intron of GHR.

What each result means

A/A No copy of the version the research linked to Other CNS infection and poliomyelitis (PheCode 324). This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Other CNS infection and poliomyelitis (PheCode 324). That is a smaller link than two copies.
G/G Two copies of the version the research linked to Other CNS infection and poliomyelitis (PheCode 324). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs78990680

What is rs78990680?

rs78990680 is a single position in the genome, in or near the GHR gene. Published research associates it with other cns infection and poliomyelitis (phecode 324). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs78990680 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 rs78990680 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

Other CNS infection and poliomyelitis (PheCode 324) (rs78990680). MyGeneLog™. https://www.mygenelog.com/variants/rs78990680

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