rs1044595
This variant is located in the STX6 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
progressive supranuclear palsy
Farrell K et al. “Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.” Nature Communications 15(1):7880 (2024)
Allele T
OR 1.35
p 3.0e-14
N 8,363
Large GWAS
European
neuroimaging measurement
Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele T
OR 0.09
p 6.0e-18
N 21,282
Major Consortium StudyLarge GWAS
European
About STX6
Enables syntaxin binding activity. Involved in regulation of protein localization; retrograde transport, endosome to Golgi; and vesicle fusion. Acts upstream of or within endocytic recycling. Located in several cellular components, including early endosome; perinuclear region of cytoplasm; and trans-Golgi network. Part of SNARE complex. [provided by Alliance of Genome Resources, Jul 2025]
View all STX6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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