rs148024643

This is a intron variant variant in the SNRPC gene.

GWAS Catalog Trait Associations (3)

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

osteoarthritis, knee

Hatzikotoulas K et al. Translational genomics of osteoarthritis in 1,962,069 individuals. Nature 641(8065):1217-1224 (2025)
Allele A
OR 1.05
p 2.0e-18
N 1,316,500
Large GWAS
multi-ancestry

osteoarthritis, knee, total knee arthroplasty

Hatzikotoulas K et al. Translational genomics of osteoarthritis in 1,962,069 individuals. Nature 641(8065):1217-1224 (2025)
Allele A
OR 1.07
p 3.0e-15
N 1,006,624
Large GWAS
multi-ancestry

About SNRPC

This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009]

View all SNRPC 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…