rs10737680

This is a intron variant variant in the CFH gene.

▶

GWAS Catalog Trait Associations (5)

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

age-related macular degeneration

Fritsche LG et al. “Seven new loci associated with age-related macular degeneration.” Nature Genetics 45(4):433-9, 439e1-2 (2013)
Allele A
OR 2.43
p —
N 59,494
Large 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 A
OR 3.11
p 2.0e-76
N 3,307
Large GWAS
multi-ancestry

blood protein 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 C
OR 0.30
p 4.0e-63
N 5,352
Large GWAS
European

complement factor H measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele C
OR 0.50
p 1.0e-36
N 997
Small GWAS
multi-ancestry

retinal vasculature measurement

Jiang X et al. “GWAS on retinal vasculometry phenotypes.” Plos Genetics 19(2):e1010583 (2023)
Allele A
OR 0.48
p 4.0e-11
N 52,798
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…