rs528298

This is a intron variant variant in the CFH gene.

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GWAS Catalog Trait Associations (13)

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

anaphase-promoting complex subunit 7 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.88
p —
N 3,301
Large GWAS
European

histone-lysine N-methyltransferase 2D measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.76
p 4.0e-268
N 3,301
Large GWAS
European

endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.37
p 6.0e-50
N 3,301
Large GWAS
European

glioma pathogenesis-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 0.14
p 1.0e-23
N 10,708
Large GWAS
European

uncharacterized protein C22orf15 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

tyrosine-protein phosphatase non-receptor type 1 measurement

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 0.16
p 4.0e-19
N 5,343
Large GWAS
European

DNA repair protein RAD51 homolog 1 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 0.16
p 8.0e-18
N 5,354
Large GWAS
European

heparan sulfate glucosamine 3-O-sulfotransferase 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 0.11
p 8.0e-16
N 10,708
Large GWAS
European

beta-1,4-galactosyltransferase 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 0.10
p 2.0e-15
N 10,708
Large GWAS
European

DCN1-like protein 5 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 9.0e-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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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