rs8004566
This is a intron variant variant in the STXBP6 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.
cataract
Choquet H et al. “A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.” Nature Communications 12(1):3595 (2021)
Allele G
OR 1.06
p 4.0e-9
N 538,515
Meta-analysisLarge GWAS
European
About STXBP6
Enables cadherin binding activity involved in cell-cell adhesion. Predicted to be involved in negative regulation of exocytosis. Located in adherens junction. [provided by Alliance of Genome Resources, Jul 2025]
View all STXBP6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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