rs141174940

This is a downstream gene variant variant in the VPS13B gene.

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GWAS Catalog Trait Associations (1)

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

small cell lung carcinoma

Betti MJ et al. “Genetic analysis in African ancestry populations reveals genetic contributors to lung cancer susceptibility.” American Journal of Human Genetics 112(9):2102-2114 (2025)

Allele C

OR 8.24

p 5.0e-10

N 3,747

Large GWAS

African American or Afro-Caribbean

About VPS13B

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

View all VPS13B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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