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Acute pancreatitis

CFTR · rs113812546

Where this position leads

Drugs: Elexacaftor/tezacaftor/ivacaftor (Trikafta), Ivacaftor, Vanzacaftor/tezacaftor/deutivacaftor (Alyftrek)

What the study found

Who was studied up to 14,112 European ancestry, Asian ancestry, African ancestry, Hispanic or Latin American cases, up to 1,032,106 European ancestry, Asian ancestry, African ancestry, Hispanic or Latin American controls.

The effect Each copy of the A allele shifted the measure 0.223 higher (95% confidence interval 0.14-0.3); p = 2 × 10⁻⁸.

How common The A allele had a frequency of about 2% in the people studied.

Where it sits Chromosome 7, band 7q31.2 — inside CFTR.

What each result means

A/A Two copies of the version the research linked to Acute pancreatitis. That is the strongest link of the three results. A link in a study is not a diagnosis.

A/C One copy of the version the research linked to Acute pancreatitis. That is a smaller link than two copies.

C/C No copy of the version the research linked to Acute pancreatitis. This is the starting point the study compared everyone against.

Source

Lipid levels and risk of acute pancreatitis using bidirectional Mendelian randomization

Wang B, Dron JS, Wang Y, Choi SH, Huffman JE, Cho K, Wilson PWF, Natarajan P, Peloso GM

Scientific reports · 2024 · PMID 38491158 · open access

Questions about rs113812546

What is rs113812546?

rs113812546 is a single position in the genome, in or near the CFTR gene. Published research associates it with acute pancreatitis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs113812546 linked to?

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

Does rs113812546 affect how medicines work?

CFTR carries pharmacogenomic findings for Elexacaftor/tezacaftor/ivacaftor (Trikafta), Ivacaftor, Vanzacaftor/tezacaftor/deutivacaftor (Alyftrek). That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.

Does having rs113812546 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 rs113812546 come from?

GWAS Catalog, Scientific reports 2024, PMID:38491158. 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.

Acute pancreatitis (rs113812546). MyGeneLog™. https://www.mygenelog.com/variants/rs113812546

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