rs181157443

This is a intron variant variant in the OTUB2 gene.

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GWAS Catalog Trait Associations (1)

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

protein Z-dependent protease inhibitor measurement

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

Allele G

OR —

β 1.180

p 1.0e-12

N 3,301

Large GWAS

European

About OTUB2

This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. [provided by RefSeq, Aug 2011]

View all OTUB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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