rs75394422
This is a regulatory region variant variant in the USP4 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
C-C motif chemokine 4 level
Ahola-Olli AV et al. “Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.” American Journal of Human Genetics 100(1):40-50 (2017)
Allele C
OR 0.36
p 2.0e-18
N 8,243
Large GWAS
European
About USP4
The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
View all USP4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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