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Standard
Other CNS infection and poliomyelitis (PheCode 324)
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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
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.
How common each version is
AG
KoreanKRGDB
A 2.7% · G 97.3%
KoreanKorea4K
A 2.5% · G 97.5%
KoreanKorea1K
A 2.2% · G 97.8%
Japanese ToMMo
A 3.4% · G 96.6%
World gnomAD
A 0.0% · G 100.0%
World 1000 Genomes
A 0.2% · G 99.8%
World TOPMed
A 0.0% · G 100.0%
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
A/ANo 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/GOne copy of the version the research linked to Other CNS infection and poliomyelitis (PheCode 324). That is a smaller link than two copies.
G/GTwo 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.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
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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