Rs2511989
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs2511989 |
| hapmap | rs2511989 |
| hgdp | rs2511989 |
| ensembl | rs2511989 |
| gopubmed | rs2511989 |
| scholar | rs2511989 |
| rs2511989 | |
| pharmgkb | rs2511989 |
| hgvbaseg2p | rs2511989 |
| medrefsnp | rs2511989 |
| 23andMe | rs2511989 |
| SNP Nexus |
| Chromosome | 11 |
| Orientation | minus |
| Position | 57134900 |
| Genotype | Effect |
|---|---|
| rs2511989(A;A) | 0.44x decreased age-related macular degeneration risk |
| rs2511989(A;G) | 0.63x decreased age-related macular degeneration risk |
| rs2511989(G;G) | normal |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs2511989(A;A) | 2.22.2 | 0.44x decreased age-related macular degeneration risk |
| Rs2511989(A;G) | 2.12.1 | 0.63x decreased age-related macular degeneration risk |
| Rs2511989(G;G) | 00 | normal |
[PMID 19169411] rs2511989 not associated with AMD
rs2511989(A;A) had a protective effect against age related macular degeneration.
Comparison of the rs2511989(A;G) genotype and the wild type (G;G) genotype yielded an odds ratio of 0.63 (CI: 0.47 to 0.84) for age-related macular degeneration.
Comparison of rs2511989(A;A) homozygotes with (G;G) homozygotes resulted in an odds ratio of 0.44 (CI: 0.31 to 0.64).
| ? | (A;A) (A;G) (G;G) |
|---|---|
|
| |
[PMID 19607829] Localization of Complement 1 Inhibitor (C1INH/SERPING1) in Human Eyes with Age-Related Macular Degeneration
| PharmGKB | PA162356022 |
| Name | |
| Annotation | This variant is located within intron six of the SERPING1 gene and strongly associated with age-related macular degeneration. |
| Gene | SERPING1 |
| Featue | |
| Evidence | PubMed ID:18842294 |
| Drugs | |
| Diseases | Macular Degeneration |
| Curation Level | Curated |
[PMID 20161815] SERPING1 polymorphisms in polypoidal choroidal vasculopathy
[PMID 20062564] An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population
