{{Rsnum
|rsid=641153
|Gene=CFB
|Chromosome=6
|position=31946403
|Orientation=minus
|GMAF=0.09734
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CFB
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 86.2 | 13.8 | 0.0
| HCB | 0.0 | 0.0 | 0.0
| JPT | 0.0 | 0.0 | 0.0
| YRI | 79.4 | 19.0 | 1.6
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 0.0
| CHD | 91.7 | 7.4 | 0.9
| GIH | 62.2 | 31.6 | 6.1
| LWK | 0.0 | 0.0 | 0.0
| MEX | 82.5 | 15.8 | 1.8
| MKK | 0.0 | 0.0 | 0.0
| TSI | 84.0 | 12.0 | 4.0
| HapMapRevision=28
}}
[[age related macular degeneration]] {{PMID|16518403|OA=1
}}

{{omim
|id=138470
|desc=COMPLEMENT FACTOR B; CFB
|rsnum=641153
}}
{{PMID Auto
|PMID=19556007
|Title=Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology
}}
{{PMID Auto
|PMID=19899988
|Title=Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population
}}

{{PMID Auto GWAS
|PMID=20385826
|Trait=Age-related macular degeneration
|Title=Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
|RiskAllele=
|Pval=2E-20
|OR=None
|ORtxt=None
|OA=1
}}

{{omim
|id=138470
|rsnum=641153
|variant=0004
}}

{{PMID Auto
|PMID=21541267
|Title=Complement factor B polymorphism 32W protects against age-related macular degeneration
|OA=1
}}

{{PMID Auto GWAS
|PMID=21665990
|Trait=None
|Title=Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
|RiskAllele=
|Pval=6E-31
|OR=1.8500
|ORtxt=[NR]
|OA=1
}}

{{PMID Auto
|PMID=22440158
|Title=CFB/C2 Gene Polymorphisms and Risk of Age-Related Macular Degeneration: A Systematic Review and Meta-Analysis
}}

{{ClinVar
|rsid=641153
|Reversed=1
|FwdREF=C
|FwdALT=A,T
|REF=G
|ALT=A,T
|RSPOS=31914180
|CHROM=6
|GMAF=0.0971
|dbSNPBuildID=83
|SSR=0
|SAO=1
|VP=0x050368000000150517130101
|GENEINFO=CFB:629
|GENE_NAME=CFB
|GENE_ID=629
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.31914180G>A
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.9027; 0.09734; .
|CLNACC=RCV000017453.1; RCV000017454.26; RCV000017458.27
|CLNDBN=Factor B fast/slow polymorphism; BF*FA/S; Age-related macular degeneration 14
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=CN180565:615489
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=138470.0001; 138470.0004
|COMMON=1
|Disease=Factor B fast/slow polymorphism; BF*FA/S; Age-related macular degeneration 14
}}

{{PMID Auto
|PMID=17917691
|Title=Genetic markers and biomarkers for age-related macular degeneration.
|OA=1
}}

{{PMID Auto
|PMID=18806293
|Title=Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD).
}}

{{PMID Auto
|PMID=18806297
|Title=Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration.
}}

{{PMID Auto
|PMID=19169232
|Title=Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.
}}

{{PMID Auto
|PMID=19187590
|Title=Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population.
}}

{{PMID Auto
|PMID=19661236
|Title=Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.
|OA=1
}}

{{PMID Auto
|PMID=19696172
|Title=The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration.
}}

{{PMID Auto
|PMID=19838195
|Title=A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
|OA=1
}}

{{PMID Auto
|PMID=20157618
|Title=Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.
|OA=1
}}

{{PMID Auto
|PMID=21402993
|Title=Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors.
}}

{{PMID Auto
|PMID=21455292
|Title=Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration.
|OA=1
}}

{{PMID Auto
|PMID=22273503
|Title=Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.
}}

{{PMID Auto GWAS
|PMID=22705344
|Trait=None
|Title=Heritability and Genome-Wide Association Study to Assess Genetic Differences between Advanced Age-Related Macular Degeneration Subtypes.
|RiskAllele=
|Pval=1E-17
|OR=2.2200
|ORtxt=None
|OA=1
}}

{{GET Evidence
|gene=CFB
|aa_change=Arg32Gln
|aa_change_short=R32Q
|impact=protective
|qualified_impact=Moderate clinical importance, Likely protective
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs641153
|overall_frequency_n=15
|overall_frequency_d=128
|overall_frequency=0.117188
|n_genomes=12
|n_genomes_annotated=0
|n_haplomes=12
|n_articles=3
|n_articles_annotated=3
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_severity=3
|qualityscore_treatability=2
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.01
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=4
|webscore=Y
|n_web_uneval=1
|variant_evidence=1
|clinical_importance=1
|summary_short=This variant is associated with a significant protective effect -- individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect.
}}

{{PMID Auto
|PMID=23582991
|Title=Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration
}}

{{PMID Auto
|PMID=23919682
|Title=Complement alternative pathway genetic variation and Dengue infection in the Thai population
|OA=1
}}

{{PMID Auto
|PMID=24392338
|Title=Complement factor B polymorphism (rs641153) and susceptibility to age-related macular degeneration: evidence from published studies
|OA=1
}}

{{PMID Auto
|PMID=23373431
|Title=Complement factor B polymorphism and the phenotype of early age-related macular degeneration.
}}

{{PMID Auto
|PMID=24865190
|Title=Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}