rs376886420
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6.8 | Retinoblastoma (predicted) |
| Make rs376886420(A;G) |
| Make rs376886420(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 13 |
| Position | 48453114 |
| Gene | RB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs376886420 |
| dbSNP (classic) | rs376886420 |
| ClinGen | rs376886420 |
| ebi | rs376886420 |
| HLI | rs376886420 |
| Exac | rs376886420 |
| Gnomad | rs376886420 |
| Varsome | rs376886420 |
| LitVar | rs376886420 |
| Map | rs376886420 |
| PheGenI | rs376886420 |
| Biobank | rs376886420 |
| 1000 genomes | rs376886420 |
| hgdp | rs376886420 |
| ensembl | rs376886420 |
| geneview | rs376886420 |
| scholar | rs376886420 |
| rs376886420 | |
| pharmgkb | rs376886420 |
| gwascentral | rs376886420 |
| openSNP | rs376886420 |
| 23andMe | rs376886420 |
| SNPshot | rs376886420 |
| SNPdbe | rs376886420 |
| MSV3d | rs376886420 |
| GWAS Ctlg | rs376886420 |
| Max Magnitude | 6.8 |
| ClinVar | |
|---|---|
| Risk | rs376886420(C;C) rs376886420(G;G) |
| Alt | rs376886420(C;C) rs376886420(G;G) |
| Reference | Rs376886420(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Retinoblastoma |
| Variation | info |
| Gene | RB1 |
| CLNDBN | Retinoblastoma |
| Reversed | 0 |
| HGVS | NC_000013.10:g.49027250A>C; NC_000013.10:g.49027250A>G |
| CLNSRC | |
| CLNACC | RCV000227413.1, RCV000238879.1, |
