rs73351608

This is a upstream gene variant variant in the SQSTM1 gene.

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GWAS Catalog Trait Associations (1)

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

alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B measurement

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

Allele T

OR —

β 0.960

p 2.0e-29

N 3,301

Large GWAS

European

About SQSTM1

This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]

View all SQSTM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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