Standard

Intracranial aneurysm

BET1L · rs2280543

Where this position leads

Condition: Intracranial Aneurysm

rs2280543 Condition: Intracranial Aneurysm Intracranial Aneurysm Condition rs2280543 rs2280543 BET1L

What the study found

Who was studied 7,495 European ancestry cases, 3,259 East Asian ancestry cases, 71,934 European ancestry controls, 234,948 East Asian ancestry controls.

The effect Each copy of the T allele shifted the measure 0.238 higher (95% confidence interval 0.18-0.3); p = 1 × 10−14.

How common The T allele had a frequency of about 10% in the people studied.

Where it sits Chromosome 11, band 11p15.5 — in the 3′ untranslated region of BET1L.

What each result means

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

Questions about rs2280543

What is rs2280543?

rs2280543 is a single position in the genome, in or near the BET1L gene. Published research associates it with intracranial aneurysm. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2280543 linked to?

On MyGeneLog this position is linked to Intracranial Aneurysm. The research behind each link, and its sources, are set out on that condition page.

Does having rs2280543 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 rs2280543 come from?

GWAS Catalog, Nature genetics 2020, PMID:33199917. 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.

Intracranial aneurysm (rs2280543). MyGeneLog™. https://www.mygenelog.com/variants/rs2280543

← See all variants