rs4151667

plus

Geno	Mag	Summary
(A;A)	3.1	age related macular degeneration
(A;T)	3	age related macular degeneration
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

6

Position

31946247

Gene

CFB

is a	snp
is	mentioned by
dbSNP	rs4151667
dbSNP (classic)	rs4151667
ClinGen	rs4151667
ebi	rs4151667
HLI	rs4151667
Exac	rs4151667
Gnomad	rs4151667
Varsome	rs4151667
LitVar	rs4151667
Map	rs4151667
PheGenI	rs4151667
Biobank	rs4151667
1000 genomes	rs4151667
hgdp	rs4151667
ensembl	rs4151667
geneview	rs4151667
scholar	rs4151667
google	rs4151667
pharmgkb	rs4151667
gwascentral	rs4151667
openSNP	rs4151667
23andMe	rs4151667
SNPshot	rs4151667
SNPdbe	rs4151667
MSV3d	rs4151667
GWAS Ctlg	rs4151667

GMAF

0.02984

Max Magnitude

3.1

?

(A;A) (A;T) (T;T)

28

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

OMIM	138470
Desc	COMPLEMENT FACTOR B; CFB
Variant
Related	also

[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

OMIM	138470
Desc
Variant	0003
Related	also

[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 Atypical hemolytic uremic syndrome Macular degeneration Complement component 2 deficiency not specified
Variation	info
Gene	CFB
CLNDBN	Age-related macular degeneration 14 Atypical hemolytic uremic syndrome Macular degeneration Complement component 2 deficiency not specified
Reversed	0
HGVS	NC_000006.11:g.31914024T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017457.25, RCV000264554.1, RCV000288622.1, RCV000385220.1, RCV000454952.1,

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

[PMID 18493315 ] 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 19259132 ] Multilocus analysis of age-related macular degeneration.

[PMID 20378180 ] 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.

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

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

[PMID 24675670 ] 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.

[PMID 31916060] Investigation of genetic base in the treatment of age-related macular degeneration.