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Lung function (FEV1/FVC)

CACNA1D · rs11711142

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−22, 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 475,645 European ancestry individuals, 8,590 African ancestry individuals, 85,279 East Asian ancestry individuals, 4,270 South Asian ancestry individuals, 14,668 Hispanic or Latin American individuals.

The effect Each copy of the A allele shifted the measure 9.75 z score higher; p = 2 × 10−22.

How common The A allele had a frequency of about 73% in the people studied.

Where it sits Chromosome 3, band 3p21.1 — in an intron of CACNA1D.

What each result means

A/A Two copies of the version the research linked to Lung function (FEV1/FVC). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Lung function (FEV1/FVC). That is a smaller link than two copies.
G/G No copy of the version the research linked to Lung function (FEV1/FVC). This is the starting point the study compared everyone against.
Source

Questions about rs11711142

What is rs11711142?

rs11711142 is a single position in the genome, in or near the CACNA1D gene. Published research associates it with lung function (fev1/fvc). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs11711142 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 rs11711142 come from?

GWAS Catalog, Nature genetics 2023, PMID:36914875. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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Lung function (FEV1/FVC) (rs11711142). MyGeneLog™. https://www.mygenelog.com/variants/rs11711142

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