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Alanine aminotransferase levels

CYFIP2 · rs2289850

What the study found

Who was studied 390,812 European ancestry individuals; replicated in 134,154 East Asian ancestry individuals.

The effect Each copy of the T allele shifted the measure 7.82 z-score higher; p = 5 × 10−15.

How common The T allele had a frequency of about 95% in the people studied.

Where it sits Chromosome 5, band 5q33.3 — in an intron of CYFIP2.

What ClinVar records

Classification Benign for Developmental and epileptic encephalopathy, 65; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2026-02-04. ClinVar record 1255443 NM_001037333.3(CYFIP2):c.2079+9T>C

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

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

Questions about rs2289850

What is rs2289850?

rs2289850 is a single position in the genome, in or near the CYFIP2 gene. Published research associates it with alanine aminotransferase levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2289850 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 rs2289850 come from?

GWAS Catalog, Nature communications 2021, PMID:33547301. 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.

Alanine aminotransferase levels (rs2289850). MyGeneLog™. https://www.mygenelog.com/variants/rs2289850

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