rs1048709

This is a synonymous variant in the CFB gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

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 A
OR 0.17
p 2.0e-16
N 5,365
Large GWAS
European
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ClinVar annotation

Benign★★★☆
8 submitters2 publications

Atypical hemolytic-uremic syndrome with B factor anomaly; Complement component 2 deficiency (C2D); Complement factor b deficiency; Macular degeneration

View on ClinVar →
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Research that mentions this SNP (2)

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Genetic Dissection of Acute Anterior Uveitis Reveals Similarities and Differences in Associations Observed With Ankylosing Spondylitis
AssociationN=14,050Robinson PC et al.(2015)· Arthritis &amp; Rheumatology

Genetic dissection of acute anterior uveitis (AAU) using high-density Immunochip genotyping in 1,711 AAU cases and 10,000 controls identifies HLA-B27 tag SNP rs116488202 (OR=16.8, P<1×10⁻³⁰⁰) as the strongest association, and three genome-wide significant non-MHC loci (IL23R, chromosome 2p15 intergenic region, and ERAP1) shared with ankylosing spondylitis. Five additional suggestive loci including IL10-IL19, IL18R1-IL1R1, IL6R, KIF21B, and EYS are identified, with shared genetic pathways with inflammatory bowel disease suggesting common etiologic mechanisms.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)AsthmaCeliac diseaseInflammatory bowel diseaseRetinitis pigmentosaSarcoidosisStatin-induced myopathy
PubMedDOIMetascience Observatory
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Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population
AssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)Spondyloarthropathies
PubMedDOIMetascience Observatory

About CFB

This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]

View all CFB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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