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.