|(C;C)||0||common in clinvar|
[PMID 19556007] Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology
[PMID 19899988] Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population
|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)|
|Odds Ratio||None None|
|Title||Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.|
|Odds Ratio||1.8500 [NR]|
[PMID 22440158] CFB/C2 Gene Polymorphisms and Risk of Age-Related Macular Degeneration: A Systematic Review and Meta-Analysis
|Disease||Factor B fast/slow polymorphism BF*FA/S Age-related macular degeneration 14|
|CLNDBN||Factor B fast/slow polymorphism BF*FA/S Age-related macular degeneration 14|
|CLNSRC||OMIM Allelic Variant|
|CLNACC||RCV000017453.2, RCV000017454.27, RCV000017458.29,|
[PMID 17917691] Genetic markers and biomarkers for age-related macular degeneration.
[PMID 18806293] Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD).
[PMID 18806297] Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration.
[PMID 19169232] Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.
[PMID 19187590] Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population.
[PMID 19661236] Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.
[PMID 19696172] The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration.
[PMID 19838195] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
[PMID 20157618] Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.
[PMID 21402993] Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors.
[PMID 21455292] Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration.
[PMID 22273503] Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.
|Title||Heritability and Genome-Wide Association Study to Assess Genetic Differences between Advanced Age-Related Macular Degeneration Subtypes.|
|Odds Ratio||2.2200 None|
|qualified_impact||Moderate clinical importance, Likely protective|
|summary||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 23582991] Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration
[PMID 23919682] Complement alternative pathway genetic variation and Dengue infection in the Thai population
[PMID 24392338] Complement factor B polymorphism (rs641153) and susceptibility to age-related macular degeneration: evidence from published studies
[PMID 23373431] Complement factor B polymorphism and the phenotype of early age-related macular degeneration.
[PMID 24865190] Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population