rs1411478

This variant is located in the STX6 gene.

▶

GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele A

OR 0.01

p 1.0e-23

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

age at menopause

Day FR et al. “Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.” Nature Genetics 47(11):1294-1303 (2015)

Allele A

OR 0.13

p 1.0e-10

N 69,626

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 G

OR 0.08

p 4.0e-16

N 21,282

Major Consortium StudyLarge GWAS

European

▶

Research that mentions this SNP (1)

▶

Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci

AssociationN=437Mariet Allen et al.(2016)· Acta Neuropathologica

A study of 175 PSP (progressive supranuclear palsy) cases examining effects of GWAS-identified risk variants on brain gene expression, CpG methylation, and neuropathology. PSP risk SNPs rs8070723, rs242557, and rs1768208 were associated with altered brain levels of LRRC37A4, ARL17B, ARL17A, and MOBP. Meta-analysis confirmed highly significant associations for rs8070723 with LRRC37A4 and rs1768208 with MOBP. Risk alleles also associated with increased tau neuropathology including coiled bodies and tau threads, suggesting these variants influence PSP risk through effects on gene expression and tau pathology.

Traits studied:Neurofibrillary tanglesOligodendroglial coiled bodiesProgressive supranuclear palsy (PSP)Tau neuropathologyTau threadsTufted astrocytes

PubMed DOI Metascience Observatory

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]