rs12689287
This is a intron variant variant in the TBC1D8B 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.
acute pancreatitis
Bourgault J et al. “Proteome-Wide Mendelian Randomization Identifies Causal Links Between Blood Proteins and Acute Pancreatitis.” Gastroenterology 164(6):953-965.e3 (2023)
Allele A
OR 0.11
p 8.0e-19
N 855,309
Large GWAS
European
About TBC1D8B
This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
View all TBC1D8B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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