rs11651340

This variant is located in the VPS53 gene.

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GWAS Catalog Trait Associations (1)

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

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)

Allele T

OR 0.03

p 1.0e-30

N 219,872

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Benign★☆☆☆

2 submitters

not provided; Ovarian serous cystadenocarcinoma; Hepatocellular carcinoma

View on ClinVar →

About VPS53

Involved in endocytic recycling and retrograde transport, endosome to Golgi. Acts upstream of or within lysosomal transport. Located in several cellular components, including Golgi apparatus; perinuclear region of cytoplasm; and recycling endosome. Part of EARP complex and GARP complex. Implicated in pontocerebellar hypoplasia type 2E. [provided by Alliance of Genome Resources, Jul 2025]

View all VPS53 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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