rs200782888
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200782888(A;A) |
| Make rs200782888(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 16 |
| Position | 3749626 |
| Gene | CREBBP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200782888 |
| dbSNP (classic) | rs200782888 |
| ClinGen | rs200782888 |
| ebi | rs200782888 |
| HLI | rs200782888 |
| Exac | rs200782888 |
| Gnomad | rs200782888 |
| Varsome | rs200782888 |
| LitVar | rs200782888 |
| Map | rs200782888 |
| PheGenI | rs200782888 |
| Biobank | rs200782888 |
| 1000 genomes | rs200782888 |
| hgdp | rs200782888 |
| ensembl | rs200782888 |
| geneview | rs200782888 |
| scholar | rs200782888 |
| rs200782888 | |
| pharmgkb | rs200782888 |
| gwascentral | rs200782888 |
| openSNP | rs200782888 |
| 23andMe | rs200782888 |
| SNPshot | rs200782888 |
| SNPdbe | rs200782888 |
| MSV3d | rs200782888 |
| GWAS Ctlg | rs200782888 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200782888(A;A) |
| Alt | rs200782888(A;A) |
| Reference | Rs200782888(G;G) |
| Significance | Pathogenic |
| Disease | Rubinstein-Taybi syndrome |
| Variation | info |
| Gene | CREBBP |
| CLNDBN | Rubinstein-Taybi syndrome |
| Reversed | 1 |
| HGVS | NC_000016.9:g.3799627C>T |
| CLNSRC | ClinVar University of Chicago |
| CLNACC | RCV000145741.1, |
