rs2274700

Orientation

minus

Stabilized

minus

Make rs2274700(A;A)

Make rs2274700(A;C)

Make rs2274700(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

196713817

Gene

CFH

is a	snp
is	mentioned by
dbSNP	rs2274700
dbSNP (classic)	rs2274700
ClinGen	rs2274700
ebi	rs2274700
HLI	rs2274700
Exac	rs2274700
Gnomad	rs2274700
Varsome	rs2274700
LitVar	rs2274700
Map	rs2274700
PheGenI	rs2274700
Biobank	rs2274700
1000 genomes	rs2274700
hgdp	rs2274700
ensembl	rs2274700
geneview	rs2274700
scholar	rs2274700
google	rs2274700
pharmgkb	rs2274700
gwascentral	rs2274700
openSNP	rs2274700
23andMe	rs2274700
SNPshot	rs2274700
SNPdbe	rs2274700
MSV3d	rs2274700
GWAS Ctlg	rs2274700

GMAF

0.4366

Max Magnitude

0

OMIM	134370
Desc	COMPLEMENT FACTOR H; CFH
Variant
Related	also

[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)

OMIM	134370
Desc
Variant	0015
Related	also

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

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

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

[PMID 17917691 ] 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 18043728 ] Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.

[PMID 18081690 ] 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 20161815 ] SERPING1 polymorphisms in polypoidal choroidal vasculopathy.

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

[PMID 21402993 ] 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(A;A) rs2274700(G;G) rs2274700(T;T)
Alt	rs2274700(A;A) rs2274700(G;G) rs2274700(T;T)
Reference	rs2274700(C;C)
Significance	Other
Disease	Macular degeneration Mesangiocapillary glomerulonephritis Atypical hemolytic uremic syndrome Basal laminar drusen Age-related macular degeneration 4
Variation	info
Gene	CFH
CLNDBN	Macular degeneration Mesangiocapillary glomerulonephritis, type II Atypical hemolytic uremic syndrome Basal laminar drusen Age-related macular degeneration 4
Reversed	1
HGVS	NC_000001.10:g.196682947G>A; NC_000001.10:g.196682947G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000281469.1, RCV000338900.1, RCV000387444.1, RCV000404891.1, RCV000018023.3,

[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.