{{Rsnum
|rsid=800292
|Gene=CFH
|Chromosome=1
|position=196673103
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4348
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CFH
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 62.8 | 31.0 | 6.2
| HCB | 43.1 | 42.3 | 14.6
| JPT | 35.4 | 46.0 | 18.6
| YRI | 3.4 | 31.3 | 65.3
| ASW | 10.5 | 45.6 | 43.9
| CHB | 43.1 | 42.3 | 14.6
| CHD | 29.4 | 50.5 | 20.2
| GIH | 50.0 | 41.0 | 9.0
| LWK | 2.7 | 31.8 | 65.5
| MEX | 47.4 | 47.4 | 5.3
| MKK | 13.5 | 41.0 | 45.5
| TSI | 50.0 | 45.1 | 4.9
| HapMapRevision=28
}}[[rs800292]] is a SNP in the complement factor H [[CFH]] gene; it has been linked to blindness in [[age related macular degeneration]]. This SNP is also known as 184G>A, I62V, or Val62Ile.

A haplotype of [[rs1061170]] [[rs3753394]] [[rs800292]] [[rs1329428]] (TGTC) was found to confer a significantly increased likelihood of exudative AMD {{PMID|17167412}}

[[CFH]] variations appear to contribute to [[ARMD]] in Caucasians, but not in Japanese {{PMID|16710702}}

{{PMID|18316707|OA=1
}} A study of Chinese AMD patients reports that carriers of both [[rs11200638]] and [[rs800292]] risk alleles pushes the odds ratio for AMD up to 23x. Overall, an "extremely high" population attributable risk (PAR) of 78% reported for these SNPs.

{{PMID|19187823}} [[rs800292]] was associated with polypoidal choroidal vasculopathy (PCV) in a study of 130 Japanese patients.

[[age related macular degeneration]] {{PMID|15870199|OA=1
}}

{{omim
|id=134370
|desc=COMPLEMENT FACTOR H; CFH
|rsnum=800292
}}

{{PMID Auto
|PMID=20132989
|Title=Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population
}}

{{PMID Auto
|PMID=20157352
|Title=Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population
|OA=1
}}

{{PMID Auto
|PMID=20538655
|Title=Polymorphisms in CFH, HTRA1 and CX3CR1 confer risk to exudative age-related macular degeneration in Han Chinese
}}
{{PMID Auto
|PMID=20678803
|Title=Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration
}}

{{omim
|id=134370
|rsnum=800292
|variant=0009
}}

{{PMID Auto
|PMID=22065918
|Title=CFH 184G as a genetic risk marker for anterior uveitis in Chinese females
|OA=1
}}

{{PMID Auto
|PMID=22509112
|Title=Genetic associations in polypoidal choroidal vasculopathy: A systematic review and meta-analysis
|OA=1
}}

{{PMID Auto
|PMID=22594510
|Title=Association of genetic polymorphisms with response to bevacizumab for neovascular age-related macular degeneration in the Chinese population
}}

{{ClinVar
|rsid=800292
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=196673103
|CHROM=1
|GMAF=0.4345
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x050368000a1515051f130100
|GENEINFO=CFH:3075
|GENE_NAME=CFH
|GENE_ID=3075
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.196673103G>A
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_000186.3:c.184G>A; 134370.0009
|CLNSIG=255
|CLNCUI=C1853147
|CLNDBN=Age-related macular degeneration 4
|Disease=Age-related macular degeneration 4
|CLNACC=RCV000018017.1
|Tags=RV;PM;PMC;S3D;SLO;NSM;REF;OTH;ASP;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.5652; 0.4348
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1853147:610698
|COMMON=1
}}

{{PMID|16080115|OA=1
}} Susceptibility genes for age-related maculopathy on chromosome 10q26.

{{PMID|17022693}} Determination of complement factor H functional polymorphisms (V62I, Y402H, and E936D) using sequence-specific primer PCR and restriction fragment length polymorphisms.

{{PMID|17591627}} Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes.

{{PMID|17877809|OA=1
}} Genetic variants of complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population.

{{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|OA=1
}} Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.

{{PMID|18162041|OA=1
}} Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.

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

{{PMID|18515590}} Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy.

{{PMID|18541031|OA=1
}} The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration.

{{PMID|18787502|OA=1
}} Genetic contributions to the development of retinopathy of prematurity.

{{PMID|19026761|OA=1
}} Molecular pathology of age-related macular degeneration.

{{PMID|19259132|OA=1
}} Multilocus analysis of age-related macular degeneration.

{{PMID|19823576|OA=1
}} CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD.

{{PMID|19861685|OA=1
}} Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.

{{PMID|19933189}} Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.

{{PMID|19958499|OA=1
}} A particle swarm based hybrid system for imbalanced medical data sampling.

{{PMID|20157618|OA=1
}} Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.

{{PMID|20161815|OA=1
}} SERPING1 polymorphisms in polypoidal choroidal vasculopathy.

{{PMID|20181037|OA=1
}} Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration.

{{PMID|20689796|OA=1
}} Monozygotic twins with polypoidal choroidal vasuculopathy.

{{PMID|21397333}} Role of complement factor H I62V and age-related maculopathy susceptibility 2 A69S variants in the clinical expression of polypoidal choroidal vasculopathy.

{{PMID|21609242}} Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population.

{{PMID|21896867}} Associations of complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotypes with subtypes of polypoidal choroidal vasculopathy.

{{PMID|21899915}} Complement polymorphisms: geographical distribution and relevance to disease.

{{PMID|21909106}} Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.

{{PMID|22618592}} Association of genetic polymorphisms and age-related macular degeneration in chinese population.

{{GET Evidence
|gene=CFH
|aa_change=Val62Ile
|aa_change_short=V62I
|impact=protective
|qualified_impact=Low clinical importance, Likely protective
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs800292
|overall_frequency_n=4213
|overall_frequency_d=10758
|overall_frequency=0.391616
|n_genomes=38
|n_genomes_annotated=0
|n_haplomes=58
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=2
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=3
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=1
|summary_short=Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.
}}

{{PMID Auto
|PMID=23111182
|Title=Prevalence and genomic association of reticular pseudodrusen in age-related macular degeneration
}}

{{PMID Auto
|PMID=23582991
|Title=Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration
}}

{{PMID Auto
|PMID=23620142
|Title=Genome-wide and Gene-Centric Analyses of Circulating Myeloperoxidase Levels in the CHARGE and CARe Consortia
}}

{{PMID Auto
|PMID=23919682
|Title=Complement alternative pathway genetic variation and Dengue infection in the Thai population
|OA=1
}}

{{PMID Auto
|PMID=24393350
|Title=Genes in the High-Density Lipoprotein Metabolic Pathway in Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy
}}

{{PMID Auto
|PMID=23864767
|Title=Association of CFH and CFB gene polymorphisms with retinopathy in type 2 diabetic patients
|OA=1
}}

{{PMID Auto
|PMID=22714898
|Title=Association of C2 and CFB polymorphisms with anterior uveitis.
}}

{{PMID Auto
|PMID=22936692
|Title=Can genetic associations change with age? CFH and age-related macular degeneration.
}}

{{PMID Auto
|PMID=23103884
|Title=Age-related macular degeneration and coronary heart disease: evaluation of genetic and environmental associations.
}}

{{PMID Auto
|PMID=23233260
|Title=Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=23289807
|Title=Gene-gene interactions of CFH and LOC387715/ARMS2 with Korean exudative age-related macular degeneration patients.
}}

{{PMID Auto
|PMID=23289808
|Title=The association of age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) variants with two angiographic subtypes of polypoidal choroidal vasculopathy.
}}

{{PMID Auto
|PMID=24865190
|Title=Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population
}}

{{PMID Auto
|PMID=24865191
|Title=Genetic Variants in the SKIV2L Gene in Exudative Age-related Macular Degeneration in the Japanese Population
}}

{{PMID Auto
|PMID=24365176
|Title=Common variants in the complement factor H gene confer genetic susceptibility to central serous chorioretinopathy
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}