rs1047286

This is a variant in the C3 gene that changes a proline to an leucine.

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GWAS Catalog Trait Associations (2)

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

complement C3 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 0.27

p 7.0e-34

N 5,366

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 0.13

p 2.0e-13

N 10,708

Large GWAS

European

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ClinVar annotation

Benign★★★☆

10 submitters6 publications

Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE; Complement component 3 deficiency; Focal segmental glomerulosclerosis (FSGS); Inborn genetic diseases

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About C3

Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]