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Free Cholesterol to Cholesteryl Esters in Very Large HDL ratio

COL6A5 · rs142300541

Where this position leads

Condition: Age-Related Macular Degeneration

rs142300541 Condition: Age-Related Macular Degeneration Age-Related Macular Degeneration Condition rs142300541 rs142300541 COL6A5

What the study found

Who was studied 98,316 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.757 higher (95% confidence interval 0.55-0.96); p = 4 × 10−13.

How common The G allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 3, band 3q22.1 — in an intron of COL6A5.

What each result means

A/A No copy of the version the research linked to Free Cholesterol to Cholesteryl Esters in Very Large HDL ratio. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Free Cholesterol to Cholesteryl Esters in Very Large HDL ratio. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Free Cholesterol to Cholesteryl Esters in Very Large HDL ratio. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs142300541

What is rs142300541?

rs142300541 is a single position in the genome, in or near the COL6A5 gene. Published research associates it with free cholesterol to cholesteryl esters in very large hdl ratio. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs142300541 linked to?

On MyGeneLog this position is linked to Age-Related Macular Degeneration. The research behind each link, and its sources, are set out on that condition page.

Does having rs142300541 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 rs142300541 come from?

GWAS Catalog, Ophthalmology science 2024, PMID:39091897. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Free Cholesterol to Cholesteryl Esters in Very Large HDL ratio (rs142300541). MyGeneLog™. https://www.mygenelog.com/variants/rs142300541

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