rs7862602

This variant is located in the C8G gene.

GWAS Catalog Trait Associations (5)

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

protein measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.45
p 6.0e-261
N 10,708
Large GWAS
European

sulfatase-modifying factor 1 measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.40
p 6.0e-202
N 10,708
Large GWAS
European

gremlin-1 measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.14
p 2.0e-25
N 10,708
Large GWAS
European

blood protein amount

Allele G
OR 0.28
p 3.0e-16
N 1,257
Large GWAS
multi-ancestry

semenogelin-1 measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.09
p 7.0e-11
N 10,708
Large GWAS
European

About C8G

The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011]

View all C8G variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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