rs551397

This is a intron variant variant in the CFH gene.

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GWAS Catalog Trait Associations (1)

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

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ClinVar annotation

Benign★★★☆
4 submitters1 publication

Age related macular degeneration 4; Basal laminar drusen; Factor H deficiency (CFHD); Hemolytic uremic syndrome, atypical, susceptibility to, 1

View on ClinVar →
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Research that mentions this SNP (1)

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No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese
AssociationN=251Norimoto Gotoh et al.(2006)· Human Genetics

A case-control study of 146 Japanese exudative age-related macular degeneration (ARMD) patients and 105 controls examined complement factor H (CFH) gene polymorphisms. The study identified 61 polymorphisms in the CFH gene but found no association between rs1061170 (Y402H, χ² = 3.19, P = 0.423) or other CFH variants and exudative ARMD in Japanese, despite this SNP showing strong association in Caucasians (χ² = 110.96, P < 10⁻²⁴). The absence of CFH association in Japanese may reflect ethnic differences in ARMD phenotypes and genetic architecture.

Traits studied:Age-related macular degeneration (ARMD)Choroidal neovascularization (CNV)Exudative ARMD
PubMedDOIMetascience Observatory

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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