rs9332739
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2.1 | 0.47x decreased risk for AMD |
| (C;G) | 2.1 | 0.47x decreased risk for AMD |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 31936027 |
| Gene | C2, C2-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9332739 |
| dbSNP (classic) | rs9332739 |
| ClinGen | rs9332739 |
| ebi | rs9332739 |
| HLI | rs9332739 |
| Exac | rs9332739 |
| Gnomad | rs9332739 |
| Varsome | rs9332739 |
| LitVar | rs9332739 |
| Map | rs9332739 |
| PheGenI | rs9332739 |
| Biobank | rs9332739 |
| 1000 genomes | rs9332739 |
| hgdp | rs9332739 |
| ensembl | rs9332739 |
| geneview | rs9332739 |
| scholar | rs9332739 |
| rs9332739 | |
| pharmgkb | rs9332739 |
| gwascentral | rs9332739 |
| openSNP | rs9332739 |
| 23andMe | rs9332739 |
| SNPshot | rs9332739 |
| SNPdbe | rs9332739 |
| MSV3d | rs9332739 |
| GWAS Ctlg | rs9332739 |
| GMAF | 0.0303 |
| Max Magnitude | 2.1 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
age related macular degeneration [PMID 16518403
]
[PMID 19399715] Impact of interacting functional variants in COMT on regional gray matter volume in human brain
[PMID 19556007] Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology
| 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 | 2E-23 |
| Odds Ratio | 2.1700 [NR] |
[PMID 22440158] CFB/C2 Gene Polymorphisms and Risk of Age-Related Macular Degeneration: A Systematic Review and Meta-Analysis
[PMID 22699975] Genetic analysis of simultaneous geographic atrophy and choroidal neovascularization
| ClinVar | |
|---|---|
| Risk | Rs9332739(C;C) |
| Alt | Rs9332739(C;C) |
| Reference | Rs9332739(G;G) |
| Significance | Pathogenic |
| Disease | Age-related macular degeneration 14 Complement component 2 deficiency Macular degeneration not specified |
| Variation | info |
| Gene | C2-AS1 C2 |
| CLNDBN | Age-related macular degeneration 14 Complement component 2 deficiency Macular degeneration not specified |
| Reversed | 0 |
| HGVS | NC_000006.11:g.31903804G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012913.4, RCV000304426.1, RCV000394631.1, RCV000454375.1, |
[PMID 17917691] Genetic markers and biomarkers for age-related macular degeneration.
[PMID 18493315] C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.
[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 19169232] Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.
[PMID 19259132] Multilocus analysis of age-related macular degeneration.
[PMID 19661236] Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.
[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 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 | 2E-8 |
| Odds Ratio | 2.0800 None |
[PMID 23313922] Complement gene single nucleotide polymorphisms and biomarker endophenotypes of Alzheimer's disease
[PMID 23233260] Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population.
[PMID 31916060] Investigation of genetic base in the treatment of age-related macular degeneration.
