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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
2 / 4
Its strongest genetic-study result is p = 10−47, with 3 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 114,986 African American or Afro-Caribbean individuals, 55,837 Hispanic or Latin American individuals, 5,964 East Asian ancestry individuals, 407,836 European ancestry individuals.
The effect
Each copy of the G allele shifted the measure 0.051 lower (95% confidence interval 0.044-0.058); p = 9 × 10−48.
How common The G allele had a frequency of about 82% in the people studied.
Where it sits Chromosome 17, band 17q21.31 — in an intron of KANSL1.
How common each version is
AG
KoreanKRGDB
A 0.0% · G 100.0%
KoreanKorea4K
A 0.0% · G 100.0%
Japanese ToMMo
A 0.1% · G 99.9%
World gnomAD
A 15.0% · G 85.0%
World 1000 Genomes
A 9.4% · G 90.6%
World TOPMed
A 15.8% · G 84.2%
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 hematocrit (maximum, inv-norm transformed). This is the starting point the study compared everyone against.
A/GOne copy of the version the research linked to hematocrit (maximum, inv-norm transformed). That is a smaller link than two copies.
G/GTwo copies of the version the research linked to hematocrit (maximum, inv-norm transformed). 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
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