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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.
What the study found
Who was studied 3,094 European ancestry individuals; replicated in 1,413 European ancestry individuals.
The effect
Each copy of the G allele shifted the measure 0.103 higher (95% confidence interval 0.059-0.117); p = 5 × 10−12.
How common The G allele had a frequency of about 42% in the people studied.
Where it sits Chromosome 13, band 13q34 — in an intron of COL4A2.
What each result means
G/GTwo copies of the version the research linked to Retinal arteriolar tortuosity. That is the strongest link of the three results. A link in a study is not a diagnosis.
G/TOne copy of the version the research linked to Retinal arteriolar tortuosity. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Retinal arteriolar tortuosity. This is the starting point the study compared everyone against.
Arteriosclerosis, thrombosis, and vascular biology · 2019 · PMID 31597446 · open access
Questions about rs7991229
What is rs7991229?
rs7991229 is a single position in the genome, in or near the COL4A2 gene. Published research associates it with retinal arteriolar tortuosity. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs7991229 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 rs7991229 come from?
GWAS Catalog, Arteriosclerosis, thrombosis, and vascular biology 2019, PMID:31597446. 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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