rs35186399

This variant is located in the CFD gene.

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GWAS Catalog Trait Associations (37)

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

activating signal cointegrator 1 complex subunit 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 1.11
p 9.0e-69
N 10,708
Large GWAS
European

alpha-1-antichymotrypsin complex 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 1.00
p 5.0e-48
N 10,708
Large GWAS
European

cytochrome c oxidase subunit 4 isoform 2, mitochondrial 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 0.64
p 4.0e-20
N 10,708
Large GWAS
European

guanylate-binding protein 6 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 0.59
p 1.0e-17
N 10,708
Large GWAS
European

RNA-binding protein 24 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 0.58
p 5.0e-17
N 10,708
Large GWAS
European

DNA-directed RNA polymerases I and III subunit RPAC1 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 0.57
p 1.0e-16
N 10,708
Large GWAS
European

kv channel-interacting protein 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 0.55
p 4.0e-16
N 10,708
Large GWAS
European

OCIA domain-containing protein 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 0.56
p 6.0e-16
N 10,708
Large GWAS
European

rap guanine nucleotide exchange factor 5 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 0.56
p 6.0e-16
N 10,708
Large GWAS
European

growth factor receptor-bound protein 7 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 0.55
p 1.0e-15
N 10,708
Large GWAS
European
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ClinVar annotation

Benign★★★☆
4 submitters2 publications

not provided; CFD-related disorder

View on ClinVar →

About CFD

This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]

View all CFD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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