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near NOTCH2 · rs2493398
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
Its strongest genetic-study result is p = 10−40, with 7 associations in the GWAS Catalog.
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 81,257 African American or Afro-Caribbean individuals, 40,768 Hispanic or Latin American individuals, 4,294 East Asian ancestry individuals, 290,958 European ancestry individuals.
The effect Each copy of the G allele shifted the measure 0.0535 lower (95% confidence interval 0.046-0.061); p = 1 × 10−40.
How common The G allele had a frequency of about 73% in the people studied.
Where it sits Chromosome 1, band 1p12 — between genes, 6.7 kb from NOTCH2.
How common each version is
AG
A 7.1% · G 92.9%
A 6.1% · G 93.9%
A 6.4% · G 93.6%
A 3.6% · G 96.4%
A 20.8% · G 79.2%
A 33.7% · G 66.3%
A 39.9% · G 60.1%
A 35.4% · G 64.6%
By ancestry gnomAD
A 9.9% · G 90.1%
A 12.8% · G 87.2%
A 82.4% · G 17.6%
A 31.3% · G 68.7%
A 20.1% · G 79.9%
A 17.3% · G 82.7%
A 16.6% · G 83.5%
A 13.5% · G 86.5%
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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.
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lymphocyte (fraction, maximum, inv-norm transformed) (rs2493398). MyGeneLog™. https://www.mygenelog.com/variants/rs2493398