rs9913583
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs9913583(A;A) |
| Make rs9913583(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 1762036 |
| Gene | SERPINF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9913583 |
| dbSNP (classic) | rs9913583 |
| ClinGen | rs9913583 |
| ebi | rs9913583 |
| HLI | rs9913583 |
| Exac | rs9913583 |
| Gnomad | rs9913583 |
| Varsome | rs9913583 |
| LitVar | rs9913583 |
| Map | rs9913583 |
| PheGenI | rs9913583 |
| Biobank | rs9913583 |
| 1000 genomes | rs9913583 |
| hgdp | rs9913583 |
| ensembl | rs9913583 |
| geneview | rs9913583 |
| scholar | rs9913583 |
| rs9913583 | |
| pharmgkb | rs9913583 |
| gwascentral | rs9913583 |
| openSNP | rs9913583 |
| 23andMe | rs9913583 |
| SNPshot | rs9913583 |
| SNPdbe | rs9913583 |
| MSV3d | rs9913583 |
| GWAS Ctlg | rs9913583 |
| GMAF | 0.1001 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 20132989] Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population
[PMID 20678803] Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration
[PMID 17658465] Promoter polymorphisms of the pigment epithelium-derived factor gene are associated with diabetic retinopathy.
| ClinVar | |
|---|---|
| Risk | rs9913583(A;A) |
| Alt | rs9913583(A;A) |
| Reference | Rs9913583(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Osteogenesis Imperfecta |
| Variation | info |
| Gene | SERPINF1 |
| CLNDBN | Osteogenesis Imperfecta, Recessive |
| Reversed | 0 |
| HGVS | NC_000017.10:g.1665330C>A |
| CLNSRC | |
| CLNACC | RCV000365793.1, |
