rs17854874

This variant is located in the CABIN1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

serum gamma-glutamyl transferase measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.03
p 3.0e-13
N 355,690
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
4 submitters1 publication

not provided; CABIN1-related disorder; Acute myeloid leukemia; Nonpapillary renal cell carcinoma; Uterine corpus endometrial carcinoma; Colorectal cancer; Lymphoma; Thymoma

View on ClinVar →

About CABIN1

Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]

View all CABIN1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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