rs16851720

This is a intron variant variant in the RNF7 gene.

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GWAS Catalog Trait Associations (1)

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

hepatitis C virus infection, cirrhosis of liver

Patin E et al. “Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.” Gastroenterology 143(5):1244-1252.e12 (2012)

Allele C

OR —

p 9.0e-9

N 1,161

Large GWAS

European

About RNF7

The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation machinery important for cell cycle progression and signal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the degradation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

View all RNF7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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