Standard

Ascending aorta diameter

SMG6 · rs2224770

What the study found

Who was studied 32,215 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.06 lower; p = 5 × 10−15.

How common The C allele had a frequency of about 62% in the people studied.

Where it sits Chromosome 17, band 17p13.3 — in an intron of SMG6.

What each result means

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

Questions about rs2224770

What is rs2224770?

rs2224770 is a single position in the genome, in or near the SMG6 gene. Published research associates it with ascending aorta diameter. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2224770 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 rs2224770 come from?

GWAS Catalog, Nature genetics 2022, PMID:35637384. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Ascending aorta diameter (rs2224770). MyGeneLog™. https://www.mygenelog.com/variants/rs2224770

← See all variants