rs1130459
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1130459(A;G) |
| Make rs1130459(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 133746439 |
| Gene | TF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1130459 |
| dbSNP (classic) | rs1130459 |
| ClinGen | rs1130459 |
| ebi | rs1130459 |
| HLI | rs1130459 |
| Exac | rs1130459 |
| Gnomad | rs1130459 |
| Varsome | rs1130459 |
| LitVar | rs1130459 |
| Map | rs1130459 |
| PheGenI | rs1130459 |
| Biobank | rs1130459 |
| 1000 genomes | rs1130459 |
| hgdp | rs1130459 |
| ensembl | rs1130459 |
| geneview | rs1130459 |
| scholar | rs1130459 |
| rs1130459 | |
| pharmgkb | rs1130459 |
| gwascentral | rs1130459 |
| openSNP | rs1130459 |
| 23andMe | rs1130459 |
| SNPshot | rs1130459 |
| SNPdbe | rs1130459 |
| MSV3d | rs1130459 |
| GWAS Ctlg | rs1130459 |
| GMAF | 0.3751 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 23089144] An association of transferrin gene polymorphism and serum transferrin levels with age-related macular degeneration
[PMID 17601350
] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
| ClinVar | |
|---|---|
| Risk | rs1130459(G;G) |
| Alt | rs1130459(G;G) |
| Reference | Rs1130459(A;A) |
| Significance | Non-pathogenic |
| Disease | Atransferrinemia |
| Variation | info |
| Gene | TF |
| CLNDBN | Atransferrinemia |
| Reversed | 0 |
| HGVS | NC_000003.11:g.133465283A>G |
| CLNSRC | |
| CLNACC | RCV000360566.1, |
