rs7539005

This variant is located in the CFH gene.

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GWAS Catalog Trait Associations (11)

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

glycosyltransferase 8 domain-containing protein 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.690
p 8.0e-206
N 3,301
Large GWAS
European

alanine aminotransferase 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 0.34
p 4.0e-145
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 0.33
p 1.0e-130
N 10,708
Large GWAS
European

dipeptidyl peptidase 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 0.27
p 6.0e-87
N 10,708
Large GWAS
European

carboxypeptidase e 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 0.22
p 1.0e-55
N 10,708
Large GWAS
European

DnaJ homolog subfamily C member 4 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 0.21
p 1.0e-53
N 10,708
Large GWAS
European

t-SNARE domain-containing protein 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.360
p 2.0e-47
N 3,301
Large GWAS
European

caspase-8 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 2.0e-41
N 10,708
Large GWAS
European

ras-related protein Rab-39B 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 8.0e-32
N 10,708
Large GWAS
European

kallikrein-6 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.180
p 5.0e-13
N 3,301
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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