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Gamma glutamyl transferase levels

CABIN1 · rs17854874

What the study found

Who was studied 342,339 European ancestry individuals, 6,015 African ancestry individuals, 7,336 South Asian ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0336 lower (95% confidence interval 0.025-0.043); p = 3 × 10−13.

Where it sits Chromosome 22, band 22q11.23 — a missense change in CABIN1.

What ClinVar records

Classification Benign for CABIN1-related disorder, Acute myeloid leukemia, Nonpapillary renal cell carcinoma, Uterine corpus endometrial carcinoma, Colorectal cancer and 2 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2018-11-10. ClinVar record 1175524 NM_012295.4(CABIN1):c.2558G>A (p.Arg853Gln)

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 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

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

Questions about rs17854874

What is rs17854874?

rs17854874 is a single position in the genome, in or near the CABIN1 gene. Published research associates it with gamma glutamyl transferase levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs17854874 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 rs17854874 come from?

GWAS Catalog, Nature genetics 2021, PMID:33462484. 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.

Gamma glutamyl transferase levels (rs17854874). MyGeneLog™. https://www.mygenelog.com/variants/rs17854874

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