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Smoking initiation

PCDH9 · rs9540731

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−42, with 5 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 3,382,012 European ancestry, East Asian ancestry, Hispanic or Latin American, African ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0106 lower (95% confidence interval 0.0091-0.0121); p = 2 × 10−42.

How common The T allele had a frequency of about 48% in the people studied.

Where it sits Chromosome 13, band 13q21.32 — in an intron of PCDH9.

How common each version is

CT
Korean KRGDB
C 70.2% · T 29.8%
Korean Korea4K
C 68.3% · T 31.7%
Korean Korea1K
C 67.8% · T 32.2%
Japanese ToMMo
C 67.4% · T 32.6%
Vietnamese
C 72.4% · T 27.6%
World gnomAD
C 56.2% · T 43.8%
World 1000 Genomes
C 63.0% · T 37.0%
World TOPMed
C 57.0% · T 43.0%

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

C/C No copy of the version the research linked to Smoking initiation. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Smoking initiation. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Smoking initiation. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs9540731

What is rs9540731?

rs9540731 is a single position in the genome, in or near the PCDH9 gene. Published research associates it with smoking initiation. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs9540731 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs9540731 come from?

GWAS Catalog, Nature 2022, PMID:36477530. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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

Smoking initiation (rs9540731). MyGeneLog™. https://www.mygenelog.com/variants/rs9540731

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