From SNPedia
| Geno
|
Mag
|
Summary
|
| (A;A)
|
2.2
|
0.44x decreased age-related macular degeneration risk
|
| (A;G)
|
2.1
|
0.63x decreased age-related macular degeneration risk
|
| (G;G)
|
0
|
normal
|
| ? | (A;A) (A;G) (G;G) | 28 |
|---|
 |
[
PMID 18842294]
news
[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).
[PMID 19607829] Localization of Complement 1 Inhibitor (C1INH/SERPING1) in Human Eyes with Age-Related Macular Degeneration
| PharmGKB | PA162355780 |
| Name | |
| Annotation | A case-control study in a UK sample of 479 patients with age-related macular degeneration and 479 controls identified a highly significant association of this variant in intron six of the SERPING1 gene 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
[PMID 20576771] Determination of a gene and environment risk model for age-related macular degeneration
[PMID 20606025] The effect of genetic variants in SERPING1 on the risk of neovascular 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 |
