rs1042663

This variant is located in the C2 gene.

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GWAS Catalog Trait Associations (8)

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

ER membrane protein complex subunit 4 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 0.360
p 5.0e-18
N 3,301
Large GWAS
European

DNA repair protein RAD51 homolog 1 amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 0.25
p 2.0e-17
N 5,354
Large GWAS
European

cullin-9 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.20
p 2.0e-16
N 10,708
Large GWAS
European

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.20
p 4.0e-16
N 10,708
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.17
p 2.0e-12
N 10,708
Large GWAS
European

tyrosine-protein phosphatase non-receptor type 1 measurement

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 0.20
p 2.0e-12
N 5,343
Large GWAS
European

interleukin 18 receptor 1 measurement

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 0.21
p 5.0e-12
N 5,351
Large GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 0.26
p 5.0e-18
N 5,356
Large GWAS
European
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ClinVar annotation

Benign★★★☆
5 submitters3 publications

Age related macular degeneration 14; Complement component 2 deficiency; not specified; not provided

View on ClinVar →

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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