rs641153
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs641153(C;T) |
| Make rs641153(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 31946403 |
| Gene | CFB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs641153 |
| dbSNP (classic) | rs641153 |
| ClinGen | rs641153 |
| ebi | rs641153 |
| HLI | rs641153 |
| Exac | rs641153 |
| Gnomad | rs641153 |
| Varsome | rs641153 |
| LitVar | rs641153 |
| Map | rs641153 |
| PheGenI | rs641153 |
| Biobank | rs641153 |
| 1000 genomes | rs641153 |
| hgdp | rs641153 |
| ensembl | rs641153 |
| geneview | rs641153 |
| scholar | rs641153 |
| rs641153 | |
| pharmgkb | rs641153 |
| gwascentral | rs641153 |
| openSNP | rs641153 |
| 23andMe | rs641153 |
| SNPshot | rs641153 |
| SNPdbe | rs641153 |
| MSV3d | rs641153 |
| GWAS Ctlg | rs641153 |
| GMAF | 0.09734 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
age related macular degeneration [PMID 16518403
]
[PMID 19556007] Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology
[PMID 19899988] Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population
| 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-20 |
| Odds Ratio | None None |
[PMID 21541267] Complement factor B polymorphism 32W protects against age-related macular degeneration
| GWAS snp | |
|---|---|
| PMID | [PMID 21665990]
|
| Trait | |
| Title | Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. |
| Risk Allele | |
| P-val | 6E-31 |
| Odds Ratio | 1.8500 [NR] |
[PMID 22440158] CFB/C2 Gene Polymorphisms and Risk of Age-Related Macular Degeneration: A Systematic Review and Meta-Analysis
| ClinVar | |
|---|---|
| Risk | rs641153(A;A) rs641153(T;T) |
| Alt | rs641153(A;A) rs641153(T;T) |
| Reference | Rs641153(C;C) |
| Significance | Other |
| Disease | Factor B fast/slow polymorphism BF*FA/S Age-related macular degeneration 14 Atypical hemolytic uremic syndrome Complement component 2 deficiency Macular degeneration not specified |
| Variation | info |
| Gene | CFB |
| CLNDBN | Factor B fast/slow polymorphism BF*FA/S Age-related macular degeneration 14 Atypical hemolytic uremic syndrome Complement component 2 deficiency Macular degeneration not specified |
| Reversed | 1 |
| HGVS | NC_000006.11:g.31914180G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017453.2, RCV000017454.27, RCV000017458.29, RCV000259759.1, RCV000281261.1, RCV000319518.1, RCV000455762.1, |
[PMID 17917691] Genetic markers and biomarkers for age-related macular degeneration.
[PMID 18806293] Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD).
[PMID 18806297] Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration.
[PMID 19169232] Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.
[PMID 19187590] Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population.
[PMID 19661236] Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.
[PMID 19696172] The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration.
[PMID 19838195] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
[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 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.
| 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 | |
| P-val | 1E-17 |
| Odds Ratio | 2.2200 None |
[PMID 23582991] Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration
[PMID 23919682] Complement alternative pathway genetic variation and Dengue infection in the Thai population
[PMID 24392338] Complement factor B polymorphism (rs641153) and susceptibility to age-related macular degeneration: evidence from published studies
[PMID 23373431] Complement factor B polymorphism and the phenotype of early age-related macular degeneration.
[PMID 24865190] Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population
