Standard

Primary biliary cholangitis

DENND1B · rs12134279

Where this position leads

Condition: Primary Biliary Cholangitis

rs12134279 Condition: Primary Biliary Cholangitis Primary Biliary Cholangitis Condition rs12134279 rs12134279 DENND1B

What the study found

Who was studied 1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al); replicated in 620 European ancestry cases, 2,514 European ancestry controls.

The effect Each copy of the T allele carried 1.34 times the odds of Primary biliary cholangitis (95% confidence interval 1.25-1.45); p = 2 × 10−14.

How common The T allele had a frequency of about 20% in the people studied.

Where it sits Chromosome 1, band 1q31.3 — between genes, 29.9 kb from DENND1B.

What each result means

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

Questions about rs12134279

What is rs12134279?

rs12134279 is a single position in the genome, in or near the DENND1B gene. Published research associates it with primary biliary cholangitis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12134279 linked to?

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

Does having rs12134279 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 rs12134279 come from?

GWAS Catalog, Nat Genet 2011, PMID:21399635. 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.

Primary biliary cholangitis (rs12134279). MyGeneLog™. https://www.mygenelog.com/variants/rs12134279

← See all variants