Standard

Ascending thoracic aortic diameter

MASP1 · rs1108450

What the study found

Who was studied 33,637 European ancestry individuals, 5,057 individuals.

The effect The reported allele is T; the catalogue records no effect size ; p = 2 × 10−9.

How common The T allele had a frequency of about 83% in the people studied.

Where it sits Chromosome 3, band 3q27.3 — in an intron of MASP1.

What each result means

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

Questions about rs1108450

What is rs1108450?

rs1108450 is a single position in the genome, in or near the MASP1 gene. Published research associates it with ascending thoracic aortic diameter. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs1108450 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 rs1108450 come from?

GWAS Catalog, Nature genetics 2022, PMID:34837083. 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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Ascending thoracic aortic diameter (rs1108450). MyGeneLog™. https://www.mygenelog.com/variants/rs1108450

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