rs2286241

This is a synonymous variant in the ATP6V0B gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

beta-1,4-galactosyltransferase 2 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele C

OR —

β 0.670

p 3.0e-38

N 3,301

Large GWAS

European

About ATP6V0B

This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

View all ATP6V0B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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