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Primary biliary cholangitis

IKZF3 · rs12942330

Where this position leads

Condition: Primary Biliary Cholangitis

rs12942330 Condition: Primary Biliary Cholangitis Primary Biliary Cholangitis Condition rs12942330 rs12942330 IKZF3

What the study found

Who was studied 2,495 East Asian ancestry cases, 4,283 East Asian ancestry controls.

The effect Each copy of the T allele shifted the measure 0.319 higher (95% confidence interval 0.24-0.4); p = 6 × 10−15.

Where it sits Chromosome 17, band 17q12 — in an intron of IKZF3.

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 rs12942330

What is rs12942330?

rs12942330 is a single position in the genome, in or near the IKZF3 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 rs12942330 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 rs12942330 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 rs12942330 come from?

GWAS Catalog, Journal of hepatology 2021, PMID:34033851. 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 (rs12942330). MyGeneLog™. https://www.mygenelog.com/variants/rs12942330

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