rs9267673

This variant is located in the C2 gene.

▶

GWAS Catalog Trait Associations (2)

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

complement C2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.19

p 7.0e-95

N 47,745

Large GWAS

European

educational attainment

Okbay A et al. “Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals.” Nature Genetics 54(4):437-449 (2022)

Allele T

OR 0.02

p 3.0e-30

N 3,037,499

Large GWAS

European

▶

Research that mentions this SNP (1)

▶

Genetic Variations at Loci Involved in the Immune Response Are Risk Factors for Hepatocellular Carcinoma

AssociationN=1,159Robert J. Clifford et al.(2010)· Hepatology

Genome-wide association study identifying genetic variations affecting hepatocellular carcinoma (HCC) susceptibility in Korean populations. Strong associations found with CNV at T-cell receptor loci (TRA@, TRG@; P < 1×10^-15) and SNPs in MHC class II regions (rs9267673, rs2647073, rs3997872). Antigen presentation and processing pathway showed highly significant association (P = 1×10^-11). TPTE2 SNP rs2880301 distinguished HCC from cirrhosis (P = 1.74×10^-12).

Traits studied:Hepatocellular carcinomaLiver cirrhosisPrimary liver cancer

PubMed DOI Metascience Observatory

About C2

Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]