rs573209024

This variant is located in the STX11 gene.

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GWAS Catalog Trait Associations (1)

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

Abnormal nasolacrimal system morphology

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 3.76

p 3.0e-11

N 571,100

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Familial hemophagocytic lymphohistiocytosis 4

View on ClinVar →

About STX11

This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]

View all STX11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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