rs56214831

This variant is located in the KSR2 gene.

▶

GWAS Catalog Trait Associations (1)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.06
p 2.0e-16
N 1,122,049
Large GWAS
European
Turcot V et al. “Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.” Nature Genetics 50(1):26-41 (2018)
Allele C
OR 0.06
p 1.0e-8
N 526,508
Large GWAS
multi-ancestry
▶

ClinVar annotation

Likely Benign★★★☆
5 submitters2 publications

not provided; KSR2-related disorder; not specified

View on ClinVar →

About KSR2

Enables protein serine/threonine kinase activity. Predicted to be involved in Ras protein signal transduction; calcium-mediated signaling; and positive regulation of cold-induced thermogenesis. Predicted to act upstream of or within positive regulation of MAPK cascade. Predicted to be located in membrane. Predicted to be active in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all KSR2 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…