rs12085435

This is a variant in the C8B gene that changes a proline to an leucine.

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GWAS Catalog Trait Associations (5)

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

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 A
OR 1.07
p 5.0e-321
N 10,708
Large GWAS
European

septin-10 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR 0.67
p 1.0e-34
N 3,301
Large GWAS
European

NKG2-E type II integral membrane protein measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR 0.63
p 1.0e-30
N 3,301
Large GWAS
European

level of SHC-transforming protein 4 in blood serum

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele A
OR 1.34
p 2.0e-12
N 196
Small 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 0.56
p 5.0e-35
N 5,360
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters2 publications

not provided; not specified

View on ClinVar →

About C8B

This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

View all C8B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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