rs1329424

This variant is located in the CFH gene.

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GWAS Catalog Trait Associations (43)

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

age-related macular degeneration

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.59
p 9.9e-324
N 442,030
Major Consortium StudyLarge GWAS
European
Holliday EG et al. “Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.” Plos One 8(1):e53830 (2013)
Allele T
OR 1.41
p 2.0e-31
N 19,805
Meta-analysisLarge GWAS
multi-ancestry
Chen W et al. “Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.” Proceedings of the National Academy of Sciences of the United States of America 107(16):7401-6 (2010)
Allele T
OR 1.88
p 6.0e-16
N 3,307
Large GWAS
multi-ancestry

degeneration of macula and posterior pole

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.34
p 9.9e-324
N 426,887
Major Consortium StudyLarge GWAS
European

macular degeneration

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.71
p 9.9e-324
N 448,076
Major Consortium StudyLarge GWAS
European

retinopathy

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.21
p 9.9e-324
N 412,176
Major Consortium StudyLarge GWAS
European

probable ATP-dependent RNA helicase DDX58 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.34
p 6.0e-141
N 10,708
Large GWAS
European

cullin-9 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.22
p 7.0e-59
N 10,708
Large GWAS
European

beta-defensin 106 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.20
p 3.0e-47
N 10,708
Large GWAS
European

potassium voltage-gated channel subfamily E regulatory beta subunit 5 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.14
p 3.0e-27
N 10,708
Large GWAS
European

delta-like protein 4 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.14
p 1.0e-25
N 10,708
Large GWAS
European

uncharacterized protein KIAA0040 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.13
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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