rs3092891
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.8 | Retinoblastoma (predicted) |
| Make rs3092891(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 48379594 |
| Gene | RB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3092891 |
| dbSNP (classic) | rs3092891 |
| ClinGen | rs3092891 |
| ebi | rs3092891 |
| HLI | rs3092891 |
| Exac | rs3092891 |
| Gnomad | rs3092891 |
| Varsome | rs3092891 |
| LitVar | rs3092891 |
| Map | rs3092891 |
| PheGenI | rs3092891 |
| Biobank | rs3092891 |
| 1000 genomes | rs3092891 |
| hgdp | rs3092891 |
| ensembl | rs3092891 |
| geneview | rs3092891 |
| scholar | rs3092891 |
| rs3092891 | |
| pharmgkb | rs3092891 |
| gwascentral | rs3092891 |
| openSNP | rs3092891 |
| 23andMe | rs3092891 |
| SNPshot | rs3092891 |
| SNPdbe | rs3092891 |
| MSV3d | rs3092891 |
| GWAS Ctlg | rs3092891 |
| Max Magnitude | 6.8 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs3092891(T;T) |
| Alt | rs3092891(T;T) |
| Reference | Rs3092891(C;C) |
| Significance | Pathogenic |
| Disease | Retinoblastoma Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | RB1 |
| CLNDBN | Retinoblastoma Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000013.10:g.48953730C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013946.2, RCV000492544.1, |
[PMID 18852891
] Distribution and effects of nonsense polymorphisms in human genes.
