rs20551
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs20551(A;G) |
| Make rs20551(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 41152004 |
| Gene | EP300 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs20551 |
| dbSNP (classic) | rs20551 |
| ClinGen | rs20551 |
| ebi | rs20551 |
| HLI | rs20551 |
| Exac | rs20551 |
| Gnomad | rs20551 |
| Varsome | rs20551 |
| LitVar | rs20551 |
| Map | rs20551 |
| PheGenI | rs20551 |
| Biobank | rs20551 |
| 1000 genomes | rs20551 |
| hgdp | rs20551 |
| ensembl | rs20551 |
| geneview | rs20551 |
| scholar | rs20551 |
| rs20551 | |
| pharmgkb | rs20551 |
| gwascentral | rs20551 |
| openSNP | rs20551 |
| 23andMe | rs20551 |
| SNPshot | rs20551 |
| SNPdbe | rs20551 |
| MSV3d | rs20551 |
| GWAS Ctlg | rs20551 |
| GMAF | 0.2103 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22231458] A constitutional variant in the transcription factor EP300 strongly influences the clinical outcome of patients submitted to allo-SCT
| ClinVar | |
|---|---|
| Risk | rs20551(G;G) |
| Alt | rs20551(G;G) |
| Reference | Rs20551(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Rubinstein-Taybi syndrome |
| Variation | info |
| Gene | EP300 |
| CLNDBN | not specified Rubinstein-Taybi syndrome |
| Reversed | 0 |
| HGVS | NC_000022.10:g.41548008A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000079673.7, RCV000293642.1, |
