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Sensitive
Unspecified disorder of lipoid metabolism (PheCode 272.9)
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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 = 10−11, 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 533 African American or Afro-Caribbean cases, 119,618 African American or Afro-Caribbean controls, 2,281 European ancestry cases, 441,779 European ancestry controls, 250 Hispanic or Latin American cases, 59,022 Hispanic or Latin American controls.
The effect
Each copy of the A allele shifted the measure 3.08 lower (95% confidence interval 3.06-3.11); p = 4 × 10−12.
How common The A allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 18, band 18q12.1 — in an intron of GAREM1.
How common each version is
AG
World gnomAD
A 100.0% · G 0.0%
World 1000 Genomes
A 100.0% · G 0.0%
World TOPMed
A 100.0% · G 0.0%
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. No Korean figure for this position yet.
What each result means
A/ATwo copies of the version the research linked to Unspecified disorder of lipoid metabolism (PheCode 272.9). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to Unspecified disorder of lipoid metabolism (PheCode 272.9). That is a smaller link than two copies.
G/GNo copy of the version the research linked to Unspecified disorder of lipoid metabolism (PheCode 272.9). This is the starting point the study compared everyone against.
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
Unspecified disorder of lipoid metabolism (PheCode 272.9) (rs530034781). MyGeneLog™. https://www.mygenelog.com/variants/rs530034781