rs10033900

This is a downstream gene variant variant in the CFI gene.

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GWAS Catalog Trait Associations (6)

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 C
OR 0.17
p 4.0e-210
N 47,745
Large GWAS
European
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.24
p 4.0e-20
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

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 0.28
p 8.0e-54
N 5,359
Large GWAS
European
Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele C
OR 0.30
p 4.0e-34
N 3,200
Large GWAS
European

properdin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.04
p 3.0e-15
N 47,745
Large GWAS
European

complement factor B measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.04
p 8.0e-12
N 47,745
Large GWAS
European

age-related macular degeneration

Yu Y et al. “Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.” Human Molecular Genetics 20(18):3699-709 (2011)
Allele T
OR 1.18
p 4.0e-10
N 6,728
Large GWAS
European
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Research that mentions this SNP (1)

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TGFB1 as a Susceptibility Gene for High Myopia
AssociationN=431Zha Y. et al.(2009)· Archives of Ophthalmology

This case-control study evaluated 10 AMD-associated SNPs in 4 genes (CFI, COL8A1, LIPC, APOE) and their association with choroidal neovascularization in highly myopic Spanish Caucasian patients (147 mCNV, 103 HM without CNV, 181 controls). SNPs rs13095226 and rs669676 in COL8A1 showed significant associations in univariate analysis (OR=2.0 and 2.4 respectively), but lost significance after Bonferroni correction. Meta-analysis of rs669676 confirmed association with myopic CNV. Only age and hypertension remained significant in multivariate analysis.

Traits studied:Age-related macular degenerationChoroidal neovascularizationHigh myopiaMyopic choroidal neovascularization
PubMedDOIMetascience Observatory

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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