rs144371252
This is a intergenic variant variant in the FRMPD4 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
rotator cuff tear, shoulder impingement syndrome
Kim SK et al. “A genome-wide association study for shoulder impingement and rotator cuff disease.” Journal of Shoulder and Elbow Surgery 30(9):2134-2145 (2021)
Allele A
OR 1.30
p 2.0e-9
N 624,133
Large GWAS
European
About FRMPD4
This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]
View all FRMPD4 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…