rs1047286
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1.3 | 1.3x increased risk for age-related macular degeneration |
| (T;T) | 1.7 | 1.7x increased risk for age-related macular degeneration |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 6713251 |
| Gene | C3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1047286 |
| dbSNP (classic) | rs1047286 |
| ClinGen | rs1047286 |
| ebi | rs1047286 |
| HLI | rs1047286 |
| Exac | rs1047286 |
| Gnomad | rs1047286 |
| Varsome | rs1047286 |
| LitVar | rs1047286 |
| Map | rs1047286 |
| PheGenI | rs1047286 |
| Biobank | rs1047286 |
| 1000 genomes | rs1047286 |
| hgdp | rs1047286 |
| ensembl | rs1047286 |
| geneview | rs1047286 |
| scholar | rs1047286 |
| rs1047286 | |
| pharmgkb | rs1047286 |
| gwascentral | rs1047286 |
| openSNP | rs1047286 |
| 23andMe | rs1047286 |
| SNPshot | rs1047286 |
| SNPdbe | rs1047286 |
| MSV3d | rs1047286 |
| GWAS Ctlg | rs1047286 |
| GMAF | 0.08586 |
| Max Magnitude | 1.7 |
rs1047286 is a SNP in the complement component C3 gene.
A 2011 meta-analysis of seven studies concluded that, at least for Caucasians, the rs1047286(C;T) and (T;T) genotypes had 1.27 (CI: 1.15 - 1.41) and 1.70 (CI: 1.27 - 2.11) times higher risk of ARMD than did (G;G) genotypes. [PMID 21576320]
[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 19850835] The noncoding variant in complement factor H gene increases risk of exudative age-related macular degeneration in a Chinese population
| ClinVar | |
|---|---|
| Risk | Rs1047286(T;T) |
| Alt | Rs1047286(T;T) |
| Reference | Rs1047286(C;C) |
| Significance | Non-pathogenic |
| Disease | C3 POLYMORPHISM Atypical hemolytic uremic syndrome Macular degeneration C3 deficiency |
| Variation | info |
| Gene | C3 |
| CLNDBN | C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE Atypical hemolytic uremic syndrome Macular degeneration C3 deficiency |
| Reversed | 1 |
| HGVS | NC_000019.9:g.6713262G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018586.2, RCV000286026.1, RCV000321048.1, RCV000380392.1, |
[PMID 19828715] Complement component 3 polymorphisms interact with polyunsaturated fatty acids to modulate risk of metabolic syndrome.
[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.
[PMID 20664795] R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population.
[PMID 22273503] Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.
[PMID 23582991] Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration
[PMID 23068452] Common polymorphisms in the complement system and susceptiblity to bacterial meningitis.
[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 26305563] A Preliminary Genetic Analysis of Complement 3 Gene and Schizophrenia.
