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rs4151667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3.1 age related macular degeneration
(A;T) 3 age related macular degeneration
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position31946247
GeneCFB
is asnp
is mentioned by
dbSNPrs4151667
ebirs4151667
HLIrs4151667
Exacrs4151667
Varsomers4151667
Maprs4151667
PheGenIrs4151667
hapmaprs4151667
1000 genomesrs4151667
hgdprs4151667
ensemblrs4151667
gopubmedrs4151667
geneviewrs4151667
scholarrs4151667
googlers4151667
pharmgkbrs4151667
gwascentralrs4151667
openSNPrs4151667
23andMers4151667
23andMe allrs4151667
SNP Nexus

SNPshotrs4151667
SNPdbers4151667
MSV3drs4151667
GWAS Ctlgrs4151667
GMAF0.02984
Max Magnitude3.1
? (A;A) (A;T) (T;T) 28
age related macular degeneration [PMID 16518403OA-icon.png]


[PMID 19399715] Impact of interacting functional variants in COMT on regional gray matter volume in human brain

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

OMIM138470
Desc
Variant0003
Relatedalso


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


ClinVar
Risk rs4151667(A;A)
Alt rs4151667(A;A)
Reference rs4151667(T;T)
Significance Pathogenic
Disease Age-related macular degeneration 14
Variation info
Gene CFB
CLNDBN Age-related macular degeneration 14
Reversed 0
HGVS NC_000006.11:g.31914024T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017457.25,



[PMID 17917691OA-icon.png] Genetic markers and biomarkers for age-related macular degeneration.


[PMID 18493315OA-icon.png] C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.


[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 19187590] Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population.


[PMID 19259132OA-icon.png] Multilocus analysis of age-related macular degeneration.


[PMID 20378180OA-icon.png] Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.


[PMID 21609242] Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population.


[PMID 22273503] Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.


GET Evidence
CFB-L9H
aa_change Leu9His
aa_change_short L9H
impact protective
qualified_impact Low clinical importance, Uncertain protective
overall_frequency 0.046875
summary This variant typically occurs along with E318D, forming the H10 haplotype. This variant appears to be protective; it was associated with a significantly lower incidence of age-related macular degeneration in an American study (OR = 0.45).



[PMID 23313922] Complement gene single nucleotide polymorphisms and biomarker endophenotypes of Alzheimer's disease


[PMID 23233260OA-icon.png] Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population.


[PMID 24675670OA-icon.png] Impact of the common genetic associations of age-related macular degeneration upon systemic complement component C3d levels


[PMID 26116897] Pathway-Focused Genetic Evaluation of Immune and Inflammation Related Genes with Chronic Fatigue Syndrome


[PMID 27099955] Single-Nucleotide Polymorphisms Associated With Age-Related Macular Degeneration and Lesion Phenotypes in the Comparison of Age-Related Macular Degeneration Treatments Trials.