rs141853578

This is a variant in the CFI gene that changes a glycine to an arginine.

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GWAS Catalog Trait Associations (4)

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

complement factor I measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 1.70
p 9.0e-78
N 47,745
Large GWAS
European

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 C
OR 0.78
p 1.0e-18
N 426,887
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 C
OR 0.56
p 3.0e-12
N 412,176
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 C
OR 1.17
p 1.0e-25
N 439,724
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Pathogenic★★★☆
13 submitters19 publications

Age related macular degeneration 13; Atypical hemolytic-uremic syndrome; Atypical hemolytic-uremic syndrome with I factor anomaly; Factor I deficiency (CFID); Macular degeneration, age-related, 13, susceptibility to; not specified

View on ClinVar →

About CFI

This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]

View all CFI variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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