rs800292

A SNP in the CFH gene on chromosome 1. Its most notable genotype is G;G: 5% higher risk of Age related macular degeneration

Gene
CFH
Location
Chr 1196,673,103 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
43%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableBad5% higher risk of Age related macular degenerationWorth knowing · 2.032% of people
  2. A;GGood1% decreased risk of macular degenerationMinor · 1.041% of people
  3. A;AGood5% decreased risk of macular degenerationWorth knowing · 2.027% of people

SNPedia records rs800292 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageG;G 32% A;G 41% A;A 27%
  • European ancestry (Utah)G;G 63% A;G 31% A;A 6%
  • Han Chinese (Beijing)G;G 43% A;G 42% A;A 15%
  • Japanese (Tokyo)G;G 35% A;G 46% A;A 19%
  • Yoruba (Nigeria)G;G 3% A;G 31% A;A 65%
  • African ancestry (Southwest US)G;G 11% A;G 46% A;A 44%
  • Chinese (Denver)G;G 29% A;G 51% A;A 20%
  • Gujarati IndianG;G 50% A;G 41% A;A 9%
  • Luhya (Kenya)G;G 3% A;G 32% A;A 66%
  • Mexican ancestry (Los Angeles)G;G 47% A;G 47% A;A 5%
  • Maasai (Kenya)G;G 14% A;G 41% A;A 46%
  • TuscanG;G 50% A;G 45% A;A 5%

Conditions, medicines and genes

Other CFH SNPs

All CFH SNPs

Notes

From SNPedia

Show notes, about 640 words

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 CFH variations appear to contribute to ARMD in Caucasians, but not in Japanese 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. rs800292 was associated with polypoidal choroidal vasculopathy (PCV) in a study of 130 Japanese patients. age related macular degeneration Susceptibility genes for age-related maculopathy on chromosome 10q26. Determination of complement factor H functional polymorphisms (V62I, Y402H, and E936D) using sequence-specific primer PCR and restriction fragment length polymorphisms. Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes. Genetic variants of complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population. Coding and noncoding variants in the CFH gene and cigarette smoking influence the risk of age-related macular degeneration in a Japanese population. Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration. Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking. Multiple gene polymorphisms in the complement factor h gene are associated with exudative age-related macular degeneration in chinese. Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy. The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. Genetic contributions to the development of retinopathy of prematurity. Molecular pathology of age-related macular degeneration. Multilocus analysis of age-related macular degeneration. CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD. 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. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa. A particle swarm based hybrid system for imbalanced medical data sampling. Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort. SERPING1 polymorphisms in polypoidal choroidal vasculopathy. Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration. Monozygotic twins with polypoidal choroidal vasuculopathy. Role of complement factor H I62V and age-related maculopathy susceptibility 2 A69S variants in the clinical expression of polypoidal choroidal vasculopathy. Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population. Associations of complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotypes with subtypes of polypoidal choroidal vasculopathy. Complement polymorphisms: geographical distribution and relevance to disease. Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. Association of genetic polymorphisms and age-related macular degeneration in chinese population.

Source and license

Adapted from rs800292 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.