rs10801555

This variant is located in the CFH gene.

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GWAS Catalog Trait Associations (65)

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

angiopoietin-related 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 0.23
p 5.0e-56
N 10,708
Large GWAS
European

age-related macular degeneration

Cipriani V et al. “Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.” Human Molecular Genetics 21(18):4138-50 (2012)
Allele A
OR 2.33
p 2.0e-47
N 3,092
Large GWAS
European
Xue Z et al. “Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank.” Ebiomedicine 82:104161 (2022)
Allele A
OR 0.21
p 1.0e-25
N 66,387
Meta-analysisMajor Consortium StudyLarge GWAS
European

zinc fingers and homeoboxes protein 3 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 0.20
p 6.0e-46
N 10,708
Large GWAS
European

matrix metalloproteinase-17 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 0.18
p 9.0e-38
N 10,708
Large GWAS
European

HEPACAM family member 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 0.17
p 2.0e-32
N 10,708
Large GWAS
European

carcinoembryonic antigen-related cell adhesion molecule 21 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 0.16
p 2.0e-29
N 10,708
Large GWAS
European

fibroblast growth factor 10 level

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.16
p 3.0e-27
N 10,708
Large GWAS
European

prostate and testis expressed 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 0.15
p 2.0e-25
N 10,708
Large GWAS
European

leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing 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 0.15
p 7.0e-24
N 10,708
Large GWAS
European

cAMP-regulated phosphoprotein 19 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 0.14
p 2.0e-23
N 10,708
Large GWAS
European

About CFH

This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

View all CFH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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