rs2230199
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common |
| (C;G) | 2 | 1.6x+ risk of ARMD |
| (G;G) | 2 | 2.5x+ risk of ARMD |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 6718376 |
| Gene | C3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2230199 |
| dbSNP (classic) | rs2230199 |
| ClinGen | rs2230199 |
| ebi | rs2230199 |
| HLI | rs2230199 |
| Exac | rs2230199 |
| Gnomad | rs2230199 |
| Varsome | rs2230199 |
| LitVar | rs2230199 |
| Map | rs2230199 |
| PheGenI | rs2230199 |
| Biobank | rs2230199 |
| 1000 genomes | rs2230199 |
| hgdp | rs2230199 |
| ensembl | rs2230199 |
| geneview | rs2230199 |
| scholar | rs2230199 |
| rs2230199 | |
| pharmgkb | rs2230199 |
| gwascentral | rs2230199 |
| openSNP | rs2230199 |
| 23andMe | rs2230199 |
| SNPshot | rs2230199 |
| SNPdbe | rs2230199 |
| MSV3d | rs2230199 |
| GWAS Ctlg | rs2230199 |
| GMAF | 0.0978 |
| Max Magnitude | 2 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2230199, a SNP in the complement component C3 gene, has been reported by several investigators to be associated with ARMD. The common allele at this SNP is known as Arg102; the variant and risk allele is known as Gly102. The risk allele, in orientation to the dbSNP entry for this rs#, is (G).
In one of the largest case-control studies, the odds ratio associated with heterozygotes is 1.61, and for homozygotes, 3.26 (p = 4.5 x 10e-12). 10.1038/ng2131
NEJM reports significant associate with ARMD.
[PMID 19399715] Impact of interacting functional variants in COMT on regional gray matter volume in human brain
[PMID 19234341] Complement component 3 (C3) haplotypes and risk of advanced age-related macular degeneration
[PMID 19797206] Susceptibility genes and progression in age-related maculopathy - a study of single eyes. The prospective Muenster Ageing and Retina Study (MARS)
[PMID 19850835] The noncoding variant in complement factor H gene increases risk of exudative age-related macular degeneration in a Chinese population
[PMID 19899988] Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population
[PMID 20157618
] Complement Component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort
| GWAS snp | |
|---|---|
| PMID | [PMID 20385819]
|
| Trait | Age-related macular degeneration |
| Title | Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration |
| Risk Allele | C |
| P-val | 1E-10 |
| Odds Ratio | 1.74 [1.47-2.06] |
| GWAS snp | |
|---|---|
| PMID | [PMID 20385826]
|
| Trait | Age-related macular degeneration |
| Title | Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC) |
| Risk Allele | |
| P-val | 2E-8 |
| Odds Ratio | None None |
| GWAS snp | |
|---|---|
| PMID | [PMID 20861866]
|
| Trait | |
| Title | Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration |
| Risk Allele | C |
| P-val | 1E-8 |
| Odds Ratio | 1.44 [NR] |
| GWAS snp | |
|---|---|
| PMID | [PMID 21665990]
|
| Trait | |
| Title | Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. |
| Risk Allele | C |
| P-val | 5E-29 |
| Odds Ratio | 1.5300 [NR] |
[PMID 21871809] Complement Factor H Y402H polymorphism is associated with an increased risk of mortality after intracerebral hemorrhage
[PMID 22174912] A Common Complement C3 Variant Is Associated with Protection against Wet Age-Related Macular Degeneration in a Japanese Population
[PMID 22699975] Genetic analysis of simultaneous geographic atrophy and choroidal neovascularization
[PMID 22718507] The investigation of allele and genotype frequencies of human C3 (rs2230199) in south Iranian population
| ClinVar | |
|---|---|
| Risk | rs2230199(A;A) Rs2230199(G;G) |
| Alt | rs2230199(A;A) Rs2230199(G;G) |
| Reference | Rs2230199(C;C) |
| Significance | Other |
| Disease | MACULAR DEGENERATION C3S/C3F POLYMORPHISM Macular degeneration |
| Variation | info |
| Gene | C3 |
| CLNDBN | MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO C3S/C3F POLYMORPHISM Macular degeneration |
| Reversed | 1 |
| HGVS | NC_000019.9:g.6718387G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018584.5, RCV000018585.5, RCV000395565.1, |
[PMID 15726497] Gene-environment interaction effects on the development of immune responses in the 1st year of life.
[PMID 19043567] Evaluation of clustering and genotype distribution for replication in genome wide association studies: the age-related eye disease study.
[PMID 19048105] Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19169411] Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects.
[PMID 19202148] Assessing susceptibility to age-related macular degeneration with proteomic and genomic biomarkers.
[PMID 19259132] Multilocus analysis of age-related macular degeneration.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19381347] Single nucleotide polymorphisms of the tenomodulin gene (TNMD) in age-related macular degeneration.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 19661236] Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.
[PMID 19823576] CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD.
[PMID 19828715] Complement component 3 polymorphisms interact with polyunsaturated fatty acids to modulate risk of metabolic syndrome.
[PMID 20157352] Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.
[PMID 20664795] R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population.
[PMID 21402993] Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors.
[PMID 21455292] Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration.
[PMID 22273503] Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.
[PMID 22361228] Complement C3 gene polymorphism in renal transplantation (an Iranian experience).
| GWAS snp | |
|---|---|
| PMID | [PMID 22705344]
|
| Trait | |
| Title | Heritability and Genome-Wide Association Study to Assess Genetic Differences between Advanced Age-Related Macular Degeneration Subtypes. |
| Risk Allele | C |
| P-val | 5E-13 |
| Odds Ratio | 1.8300 None |
[PMID 23337555] Pharmacogenetics for Genes Associated with Age-Related Macular Degeneration in the Comparison of AMD Treatments Trials (CATT)
[PMID 23582991] Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration
| GWAS snp | |
|---|---|
| PMID | [PMID 23455636]
|
| Trait | Age-related macular degeneration |
| Title | Seven new loci associated with age-related macular degeneration. |
| Risk Allele | C |
| P-val | 1E-41 |
| Odds Ratio | 1.42 [1.37-1.47] |
[PMID 23919682] Complement alternative pathway genetic variation and Dengue infection in the Thai population
[PMID 23068452] Common polymorphisms in the complement system and susceptiblity to bacterial meningitis.
[PMID 23233260] Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population.
[PMID 25688879] Nonsynonymous single nucleotide polymorphisms in the complement component 3 gene are associated with risk of age-related macular degeneration: a meta-analysis
[PMID 24675670] Impact of the common genetic associations of age-related macular degeneration upon systemic complement component C3d levels
[PMID 26154559] The genetic variant rs4073 A→T of the Interleukin-8 promoter region is associated with the earlier onset of exudative age-related macular degeneration
[PMID 26505407] Association between a functional genetic polymorphism (rs2230199) and age-related macular degeneration risk: a meta-analysis
[PMID 27099955] Single-Nucleotide Polymorphisms Associated With Age-Related Macular Degeneration and Lesion Phenotypes in the Comparison of Age-Related Macular Degeneration Treatments Trials.
[PMID 27116510] Effect of Risk Alleles in CFH, C3, and VEGFA on the Response to Intravitreal Bevacizumab in Tunisian Patients with Neovascular Age-related Macular Degeneration.
[PMID 31616421] A Single Nucleotide C3 Polymorphism Associates With Clinical Outcome After Lung Transplantation.
