rs60360195
This variant is located in the SH3BP4 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.
gallstones
Fairfield CJ et al. “Genome-wide analysis identifies gallstone-susceptibility loci including genes regulating gastrointestinal motility.” Hepatology (baltimore, Md.) 75(5):1081-1094 (2022)
Allele T
OR 1.05
p 2.0e-8
N 550,437
Large GWAS
European
About SH3BP4
This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]
View all SH3BP4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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