rs483352689
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs483352689(G;G) |
| Make rs483352689(G;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 13 |
| Position | 48459721 |
| Gene | RB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs483352689 |
| dbSNP (classic) | rs483352689 |
| ClinGen | rs483352689 |
| ebi | rs483352689 |
| HLI | rs483352689 |
| Exac | rs483352689 |
| Gnomad | rs483352689 |
| Varsome | rs483352689 |
| LitVar | rs483352689 |
| Map | rs483352689 |
| PheGenI | rs483352689 |
| Biobank | rs483352689 |
| 1000 genomes | rs483352689 |
| hgdp | rs483352689 |
| ensembl | rs483352689 |
| geneview | rs483352689 |
| scholar | rs483352689 |
| rs483352689 | |
| pharmgkb | rs483352689 |
| gwascentral | rs483352689 |
| openSNP | rs483352689 |
| 23andMe | rs483352689 |
| SNPshot | rs483352689 |
| SNPdbe | rs483352689 |
| MSV3d | rs483352689 |
| GWAS Ctlg | rs483352689 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs483352689(G;G) |
| Alt | rs483352689(G;G) |
| Reference | Rs483352689(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | RB1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000013.10:g.49033857T>G |
| CLNSRC | |
| CLNACC | RCV000087167.2, |
