rs79723785

This is a intron variant variant in the BRSK1 gene.

▶

GWAS Catalog Trait Associations (5)

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

osteoarthritis, hip

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele T
OR 0.85
p 9.0e-17
N 1,152,707
Large GWAS
multi-ancestry

body height

Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)
Allele C
OR 0.53
p 2.0e-13
N 283,749
Major Consortium StudyLarge GWAS
European

osteoarthritis

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele T
OR 0.93
p 4.0e-12
N 1,962,069
Large GWAS
multi-ancestry

osteoarthritis, hip, osteoarthritis, knee, total joint arthroplasty

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele T
OR 0.87
p 8.0e-10
N 866,417
Large GWAS
multi-ancestry

grip strength measurement

Jones G et al. “Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women.” Nature Communications 12(1):654 (2021)
Allele T
OR 0.17
p 1.0e-8
N 256,523
Meta-analysisLarge GWAS
European

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…