Rs800292
| is a | snp |
| is | mentioned by |
| dbSNP | rs800292 |
| nextbio | rs800292 |
| hapmap | rs800292 |
| 1000 genomes | rs800292 |
| hgdp | rs800292 |
| ensembl | rs800292 |
| gopubmed | rs800292 |
| scholar | rs800292 |
| rs800292 | |
| pharmgkb | rs800292 |
| gwascentral | rs800292 |
| openSNP | rs800292 |
| 23andMe | rs800292 |
| 23andMe all | rs800292 |
| SNP Nexus | |
| SNPshot | rs800292 |
| SNPdbe | rs800292 |
| MSV3d | rs800292 |
| Gene | CFH |
| Chromosome | 1 |
| Orientation | minus |
| Position | 196642233 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | increased risk of macular degeneration | |
| (G;A) | ||
| (T;T) | increased risk of macular degeneration |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
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] 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]
[PMID 20132989] Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population
[PMID 20157352] Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population
[PMID 20538655] Polymorphisms in CFH, HTRA1 and CX3CR1 confer risk to exudative age-related macular degeneration in Han Chinese
[PMID 20678803] Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration
[PMID 22065918] CFH 184G as a genetic risk marker for anterior uveitis in Chinese females
[PMID 22509112] Genetic associations in polypoidal choroidal vasculopathy: A systematic review and meta-analysis
[PMID 22594510] Association of genetic polymorphisms with response to bevacizumab for neovascular age-related macular degeneration in the Chinese population
