rs1136287
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 1.8 | 1.5x increased risk of wet ARMD in a Taiwanese Chinese population |
| (T;T) | 2 | 3.9x increased risk of wet ARMD in a Taiwanese Chinese population |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 1769982 |
| Gene | SERPINF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1136287 |
| dbSNP (classic) | rs1136287 |
| ClinGen | rs1136287 |
| ebi | rs1136287 |
| HLI | rs1136287 |
| Exac | rs1136287 |
| Gnomad | rs1136287 |
| Varsome | rs1136287 |
| LitVar | rs1136287 |
| Map | rs1136287 |
| PheGenI | rs1136287 |
| Biobank | rs1136287 |
| 1000 genomes | rs1136287 |
| hgdp | rs1136287 |
| ensembl | rs1136287 |
| geneview | rs1136287 |
| scholar | rs1136287 |
| rs1136287 | |
| pharmgkb | rs1136287 |
| gwascentral | rs1136287 |
| openSNP | rs1136287 |
| 23andMe | rs1136287 |
| SNPshot | rs1136287 |
| SNPdbe | rs1136287 |
| MSV3d | rs1136287 |
| GWAS Ctlg | rs1136287 |
| GMAF | 0.3526 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs1136287, also known as Met72Thr, is a SNP in the PEDF gene.
Analysis of 86 Taiwanese Chinese patients with wet age related macular degeneration (ARMD) found the (T) allele to be more frequent in patients than in controls (50% vs 31%; p =.0005). The rs1136287(T;T) genotype was also more prevalent in patients than in controls (odds ratio 3.9, p = .0015).[PMID 18226801]
[PMID 20132989] Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population
[PMID 20504225] Pigment Epithelium-Derived Factor Expression in Colorectal Cancer Patients
[PMID 20678803] Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration
[PMID 21174599] Pigment Epithelium-Derived Factor Gene Polymorphisms in Exudative Age-Related Degeneration in a Chinese Cohort
[PMID 22029535] Lack of Association with PEDF Met72Thr Variant in Neovascular Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Han Chinese Population
[PMID 17658465] Promoter polymorphisms of the pigment epithelium-derived factor gene are associated with diabetic retinopathy.
[PMID 19223990
] Analysis of three pigment epithelium-derived factor gene polymorphisms in patients with exudative age-related macular degeneration.
[PMID 19503741] Coding variant Met72Thr in the PEDF gene and risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.
[PMID 23722394] Evaluation of pigment epithelium-derived factor and complement factor I polymorphisms as a cause of choroidal neovascularization in highly myopic eyes
[PMID 28420811] The T Allele of rs8075977 in the 5'-Flanking Region of the PEDF Gene Is Associated with Reduced Risk of Coronary Artery Disease in Elderly Chinese Men.
| ClinVar | |
|---|---|
| Risk | Rs1136287(T;T) |
| Alt | Rs1136287(T;T) |
| Reference | Rs1136287(C;C) |
| Significance | Non-pathogenic |
| Disease | Osteogenesis Imperfecta |
| Variation | info |
| Gene | SERPINF1 |
| CLNDBN | Osteogenesis Imperfecta, Recessive |
| Reversed | 0 |
| HGVS | NC_000017.10:g.1673276C>T |
| CLNSRC | |
| CLNACC | RCV000278760.1, |
