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rs641153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs641153(C;T)
Make rs641153(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position31946403
GeneCFB
is asnp
is mentioned by
dbSNPrs641153
ebirs641153
HLIrs641153
Exacrs641153
Varsomers641153
Maprs641153
PheGenIrs641153
hapmaprs641153
1000 genomesrs641153
hgdprs641153
ensemblrs641153
gopubmedrs641153
geneviewrs641153
scholarrs641153
googlers641153
pharmgkbrs641153
gwascentralrs641153
openSNPrs641153
23andMers641153
23andMe allrs641153
SNP Nexus

SNPshotrs641153
SNPdbers641153
MSV3drs641153
GWAS Ctlgrs641153
GMAF0.09734
Max Magnitude0
? (C;C) (C;T) (T;T) 28
age related macular degeneration [PMID 16518403OA-icon.png]
OMIM138470
DescCOMPLEMENT FACTOR B; CFB
Variant
Relatedalso

[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

GWAS snp
PMID [PMID 20385826OA-icon.png]
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)
Risk Allele
P-val 2E-20
Odds Ratio None None
OMIM138470
Desc
Variant0004
Relatedalso
[PMID 21541267OA-icon.png] Complement factor B polymorphism 32W protects against age-related macular degeneration
GWAS snp
PMID [PMID 21665990OA-icon.png]
Trait
Title Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Risk Allele
P-val 6E-31
Odds Ratio 1.8500 [NR]


[PMID 22440158] CFB/C2 Gene Polymorphisms and Risk of Age-Related Macular Degeneration: A Systematic Review and Meta-Analysis


ClinVar
Risk rs641153(T;T)
Alt rs641153(T;T)
Reference rs641153(C;C)
Significance Other
Disease Factor B fast/slow polymorphism BF*FA/S Age-related macular degeneration 14
Variation info
Gene CFB
CLNDBN Factor B fast/slow polymorphism BF*FA/S Age-related macular degeneration 14
Reversed 1
HGVS NC_000006.11:g.31914180G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017453.2, RCV000017454.27, RCV000017458.29,



[PMID 17917691OA-icon.png] 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 19661236OA-icon.png] 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 19838195OA-icon.png] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.


[PMID 20157618OA-icon.png] Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.


[PMID 21402993OA-icon.png] Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors.


[PMID 21455292OA-icon.png] 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.

GWAS snp
PMID [PMID 22705344OA-icon.png]
Trait
Title Heritability and Genome-Wide Association Study to Assess Genetic Differences between Advanced Age-Related Macular Degeneration Subtypes.
Risk Allele
P-val 1E-17
Odds Ratio 2.2200 None


GET Evidence
CFB-R32Q
aa_change Arg32Gln
aa_change_short R32Q
impact protective
qualified_impact Moderate clinical importance, Likely protective
overall_frequency 0.117188
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 23919682OA-icon.png] Complement alternative pathway genetic variation and Dengue infection in the Thai population


[PMID 24392338OA-icon.png] 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