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High density lipoprotein cholesterol levels

MACF1 · rs41270807

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−44, with 11 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 313,372 European ancestry individuals, 5,573 African ancestry individuals, 6,689 South Asian ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0433 lower (95% confidence interval 0.037-0.049); p = 6 × 10−45.

Where it sits Chromosome 1, band 1p34.3 — a missense change in MACF1.

How common each version is

AC
Korean KRGDB
A 84.7% · C 15.3%
Korean Korea4K
A 86.1% · C 13.9%
Korean Korea1K
A 86.2% · C 13.8%
Japanese ToMMo
A 83.0% · C 17.0%
Vietnamese
A 81.3% · C 18.7%
World gnomAD
A 84.0% · C 16.0%
World 1000 Genomes
A 88.2% · C 11.8%
World TOPMed
A 84.4% · C 15.6%

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

Questions about rs41270807

What is rs41270807?

rs41270807 is a single position in the genome, in or near the MACF1 gene. Published research associates it with high density lipoprotein cholesterol levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs41270807 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 rs41270807 come from?

GWAS Catalog, Nature genetics 2021, PMID:33462484. 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

High density lipoprotein cholesterol levels (rs41270807). MyGeneLog™. https://www.mygenelog.com/variants/rs41270807

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