rs587776781
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs587776781(-;-) |
| Make rs587776781(-;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 13 |
| Position | 48465030 |
| Gene | RB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776781 |
| dbSNP (classic) | rs587776781 |
| ClinGen | rs587776781 |
| ebi | rs587776781 |
| HLI | rs587776781 |
| Exac | rs587776781 |
| Gnomad | rs587776781 |
| Varsome | rs587776781 |
| LitVar | rs587776781 |
| Map | rs587776781 |
| PheGenI | rs587776781 |
| Biobank | rs587776781 |
| 1000 genomes | rs587776781 |
| hgdp | rs587776781 |
| ensembl | rs587776781 |
| geneview | rs587776781 |
| scholar | rs587776781 |
| rs587776781 | |
| pharmgkb | rs587776781 |
| gwascentral | rs587776781 |
| openSNP | rs587776781 |
| 23andMe | rs587776781 |
| SNPshot | rs587776781 |
| SNPdbe | rs587776781 |
| MSV3d | rs587776781 |
| GWAS Ctlg | rs587776781 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587776781(-;-) |
| Alt | rs587776781(-;-) |
| Reference | Rs587776781(G;G) |
| Significance | Pathogenic |
| Disease | Retinoblastoma |
| Variation | info |
| Gene | RB1 |
| CLNDBN | Retinoblastoma |
| Reversed | 0 |
| HGVS | NC_000013.10:g.49039166delG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013949.4, |
