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rs2274700

From SNPedia

Orientationminus
Stabilizedminus
Make rs2274700(A;A)
Make rs2274700(A;C)
Make rs2274700(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position196713817
GeneCFH
is asnp
is mentioned by
dbSNPrs2274700
ebirs2274700
HLIrs2274700
Exacrs2274700
Varsomers2274700
Maprs2274700
PheGenIrs2274700
hapmaprs2274700
1000 genomesrs2274700
hgdprs2274700
ensemblrs2274700
gopubmedrs2274700
geneviewrs2274700
scholarrs2274700
googlers2274700
pharmgkbrs2274700
gwascentralrs2274700
openSNPrs2274700
23andMers2274700
23andMe allrs2274700
SNP Nexus

SNPshotrs2274700
SNPdbers2274700
MSV3drs2274700
GWAS Ctlgrs2274700
GMAF0.4366
Max Magnitude
age related macular degeneration [PMID 15870199OA-icon.png]
OMIM134370
DescCOMPLEMENT FACTOR H; CFH
Variant
Relatedalso

[PMID 20132989] Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population

[PMID 20678803] Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration

[PMID 20843825] An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)

OMIM134370
Desc
Variant0015
Relatedalso

[PMID 21882633] [Influence of genetic mutations on clinical presentation of subretinal neovascularization. Report 1: The impact of CFH and IL-8 genes polymorphism]

[PMID 22699975OA-icon.png] Genetic analysis of simultaneous geographic atrophy and choroidal neovascularization [PMID 16936733OA-icon.png] CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.


[PMID 17327825OA-icon.png] An update on the genetics of age-related macular degeneration.


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


[PMID 17962488] Coding and noncoding variants in the CFH gene and cigarette smoking influence the risk of age-related macular degeneration in a Japanese population.


[PMID 18043728OA-icon.png] Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.


[PMID 18081690OA-icon.png] Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.


[PMID 18421087] Multiple gene polymorphisms in the complement factor h gene are associated with exudative age-related macular degeneration in chinese.


[PMID 20161815OA-icon.png] SERPING1 polymorphisms in polypoidal choroidal vasculopathy.


[PMID 20339564OA-icon.png] Risk factors for age-related maculopathy.


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


[PMID 22618592] Association of genetic polymorphisms and age-related macular degeneration in chinese population.

[PMID 23582991] Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration [PMID 22936692] Can genetic associations change with age? CFH and age-related macular degeneration.

ClinVar
Risk rs2274700(T;T)
Alt rs2274700(T;T)
Reference rs2274700(C;C)
Significance Other
Disease Age-related macular degeneration 4
Variation info
Gene CFH
CLNDBN Age-related macular degeneration 4
Reversed 1
HGVS NC_000001.10:g.196682947G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018023.2,



[PMID 25612476] Investigating the CFH Gene Polymorphisms as a Risk Factor for Age-related Macular Degeneration in an Iranian Population [PMID 26681391] Reticular Pseudodrusen and Their Association with Age-Related Macular Degeneration: The Melbourne Collaborative Cohort Study.