rs4151669

This variant is located in the C2;CFB gene.

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GWAS Catalog Trait Associations (2)

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

complement factor B measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele A
OR 1.17
p 6.0e-28
N 997
Small GWAS
multi-ancestry

cysteine and glycine-rich protein 2 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 0.23
p 2.0e-12
N 10,708
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
10 submitters2 publications

Macular degeneration; Complement component 2 deficiency; Atypical hemolytic-uremic syndrome with B factor anomaly; not provided; Atypical hemolytic-uremic syndrome; not specified; CFB-related disorder

View on ClinVar →

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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