rs13010692

This variant is located in the STON1 gene.

GWAS Catalog Trait Associations (2)

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

retinal layer thickness

Allele C
OR 0.22
p 7.0e-9
N 31,434
Major Consortium StudyLarge GWAS
European

retinal nerve fibre layer thickness

Allele C
OR 0.22
p 7.0e-9
N 31,434
Major Consortium StudyLarge GWAS
European

About STON1

Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

View all STON1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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