rs12550729

This variant is located in the SHARPIN gene.

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GWAS Catalog Trait Associations (1)

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

5-oxoproline measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)

Allele T

OR 0.06

p 6.0e-110

N 7,802

Large GWAS

European

About SHARPIN

Enables polyubiquitin modification-dependent protein binding activity. Involved in defense response to bacterium; protein linear polyubiquitination; and regulation of signal transduction. Located in cytosol. Part of LUBAC complex. [provided by Alliance of Genome Resources, Jul 2025]

View all SHARPIN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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