rs497309

This variant is located in the C2 gene.

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GWAS Catalog Trait Associations (4)

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

glomerular filtration rate

Hellwege JN et al. “Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.” Nature Communications 10(1):3842 (2019)
Allele A
OR 1.01
p 5.0e-12
N 91,729
Major Consortium StudyLarge GWAS
multi-ancestry

white matter integrity

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele C
OR 0.09
p 3.0e-10
N 20,860
Major Consortium StudyLarge GWAS
European

Inguinal hernia

Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)
Allele A
OR 1.10
p 1.0e-8
N 275,546
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (2)

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Genetic variation in innate immunity and inflammation pathways associated with lung cancer risk
AssociationN=828Meredith S. Shiels et al.(2012)· Cancer

This case-control study evaluated 1,429 SNPs in innate immunity and inflammation genes in 378 lung cancer cases and 450 controls from the PLCO Cancer Screening Trial. The main finding was a significant association between rs4648127 (NFKB1) and reduced lung cancer risk (OR=0.56, 95% CI 0.37-0.86 in PLCO; OR=0.79, 95% CI 0.69-0.90 in replication GWAS), implicating inflammation in lung cancer etiology.

Traits studied:AdenocarcinomaLarge cell carcinomaLung cancerSmall cell carcinomaSquamous cell carcinoma
PubMedDOIMetascience Observatory
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Polymorphisms in complement system genes and risk of non‐Hodgkin lymphoma
AssociationN=926Bryan A. Bassig et al.(2012)· Environmental and Molecular Mutagenesis

This case-control study of 432 cases and 494 controls examined polymorphisms in complement system genes and risk of non-Hodgkin lymphoma (NHL). A significant association was found with C1RL rs3813729 (C>T), which decreased NHL risk (OR=0.60, 95% CI=0.42-0.87, P=0.0062) and DLBCL risk (OR=0.39, 95% CI=0.20-0.73, P=0.0034). Additional associations were found with C1QG rs12756603 for CLL/SLL, and C2 rs497309 and C3 rs344550 for marginal zone lymphoma, though these were based on small case numbers.

Traits studied:Chronic lymphocytic leukemia/small lymphocytic lymphomaDiffuse large B-cell lymphomaFollicular lymphomaMarginal zone lymphomaNon-Hodgkin lymphoma
PubMedDOIMetascience 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]

View all C2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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