rs7246479

This is a synonymous variant in the BRSK1 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

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

macrophage mannose receptor 1 level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 1.0e-15
N 47,745
Large GWAS
European

aspartate aminotransferase measurement

Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele G
OR 5.54
p 3.0e-8
N 389,565
Large GWAS
multi-ancestry

About BRSK1

Enables magnesium ion binding activity and protein serine/threonine kinase activity. Involved in mitotic G2 DNA damage checkpoint signaling and protein phosphorylation. Acts upstream of or within G2/M transition of mitotic cell cycle; peptidyl-serine phosphorylation; and response to UV. Located in cell junction; cytoplasm; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all BRSK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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