rs587776456
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs587776456(C;C) |
| Make rs587776456(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | X |
| Position | 48794162 |
| Gene | GATA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776456 |
| dbSNP (classic) | rs587776456 |
| ClinGen | rs587776456 |
| ebi | rs587776456 |
| HLI | rs587776456 |
| Exac | rs587776456 |
| Gnomad | rs587776456 |
| Varsome | rs587776456 |
| LitVar | rs587776456 |
| Map | rs587776456 |
| PheGenI | rs587776456 |
| Biobank | rs587776456 |
| 1000 genomes | rs587776456 |
| hgdp | rs587776456 |
| ensembl | rs587776456 |
| geneview | rs587776456 |
| scholar | rs587776456 |
| rs587776456 | |
| pharmgkb | rs587776456 |
| gwascentral | rs587776456 |
| openSNP | rs587776456 |
| 23andMe | rs587776456 |
| SNPshot | rs587776456 |
| SNPdbe | rs587776456 |
| MSV3d | rs587776456 |
| GWAS Ctlg | rs587776456 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587776456(C;C) |
| Alt | rs587776456(C;C) |
| Reference | Rs587776456(T;T) |
| Significance | Pathogenic |
| Disease | GATA-1-related thrombocytopenia with dyserythropoiesis |
| Variation | info |
| Gene | GATA1 |
| CLNDBN | GATA-1-related thrombocytopenia with dyserythropoiesis |
| Reversed | 0 |
| HGVS | NC_000023.10:g.48652569T>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000144261.2, |
