rs2241394
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs2241394(C;G) |
| Make rs2241394(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 6685219 |
| Gene | C3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2241394 |
| dbSNP (classic) | rs2241394 |
| ClinGen | rs2241394 |
| ebi | rs2241394 |
| HLI | rs2241394 |
| Exac | rs2241394 |
| Gnomad | rs2241394 |
| Varsome | rs2241394 |
| LitVar | rs2241394 |
| Map | rs2241394 |
| PheGenI | rs2241394 |
| Biobank | rs2241394 |
| 1000 genomes | rs2241394 |
| hgdp | rs2241394 |
| ensembl | rs2241394 |
| geneview | rs2241394 |
| scholar | rs2241394 |
| rs2241394 | |
| pharmgkb | rs2241394 |
| gwascentral | rs2241394 |
| openSNP | rs2241394 |
| 23andMe | rs2241394 |
| SNPshot | rs2241394 |
| SNPdbe | rs2241394 |
| MSV3d | rs2241394 |
| GWAS Ctlg | rs2241394 |
| GMAF | 0.09642 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20157352
] Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population
[PMID 22174912] A Common Complement C3 Variant Is Associated with Protection against Wet Age-Related Macular Degeneration in a Japanese Population
[PMID 23233260] Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population.
| ClinVar | |
|---|---|
| Risk | rs2241394(G;G) |
| Alt | rs2241394(G;G) |
| Reference | Rs2241394(C;C) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | C3 |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000019.9:g.6685230G>C |
| CLNSRC | |
| CLNACC | RCV000190315.1, |
