rs2511989
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 57610852 |
| Gene | SERPING1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2511989 |
| dbSNP (classic) | rs2511989 |
| ClinGen | rs2511989 |
| ebi | rs2511989 |
| HLI | rs2511989 |
| Exac | rs2511989 |
| Gnomad | rs2511989 |
| Varsome | rs2511989 |
| LitVar | rs2511989 |
| Map | rs2511989 |
| PheGenI | rs2511989 |
| Biobank | rs2511989 |
| 1000 genomes | rs2511989 |
| hgdp | rs2511989 |
| ensembl | rs2511989 |
| geneview | rs2511989 |
| scholar | rs2511989 |
| rs2511989 | |
| pharmgkb | rs2511989 |
| gwascentral | rs2511989 |
| openSNP | rs2511989 |
| 23andMe | rs2511989 |
| SNPshot | rs2511989 |
| SNPdbe | rs2511989 |
| MSV3d | rs2511989 |
| GWAS Ctlg | rs2511989 |
| GMAF | 0.3228 |
| Max Magnitude | 2.2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[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
[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
[PMID 19026761] Molecular pathology of age-related macular degeneration.
[PMID 21609242] Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population.
[PMID 25800435] Ethnic differences in the association of SERPING1 with age-related macular degeneration and polypoidal choroidal vasculopathy
