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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 140,886 European ancestry individuals; replicated in 190,318 European ancestry individuals.
The effect
Each copy of the A allele shifted the measure 0.211 lower (95% confidence interval 0.15-0.27); p = 1 × 10−11.
How common The A allele had a frequency of about 25% in the people studied.
Where it sits Chromosome 20, band 20p12.3 — in an intron of PLCB1.
How common each version is
AC
KoreanKRGDB
A 29.2% · C 70.8%
KoreanKorea4K
A 29.9% · C 70.0%
KoreanKorea1K
A 30.2% · C 69.8%
Japanese ToMMo
A 31.7% · C 68.3%
Vietnamese
A 15.9% · C 84.1%
World gnomAD
A 34.6% · C 65.4%
World 1000 Genomes
A 38.0% · C 62.0%
World TOPMed
A 36.3% · C 63.7%
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/ATwo copies of the version the research linked to Diastolic blood pressure. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/COne copy of the version the research linked to Diastolic blood pressure. That is a smaller link than two copies.
C/CNo copy of the version the research linked to Diastolic blood pressure. This is the starting point the study compared everyone against.
Nature genetics · 2017 · PMID 28135244 · open access
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