rs11644721
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs11644721(C;T) |
| Make rs11644721(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 3851010 |
| Gene | CREBBP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11644721 |
| dbSNP (classic) | rs11644721 |
| ClinGen | rs11644721 |
| ebi | rs11644721 |
| HLI | rs11644721 |
| Exac | rs11644721 |
| Gnomad | rs11644721 |
| Varsome | rs11644721 |
| LitVar | rs11644721 |
| Map | rs11644721 |
| PheGenI | rs11644721 |
| Biobank | rs11644721 |
| 1000 genomes | rs11644721 |
| hgdp | rs11644721 |
| ensembl | rs11644721 |
| geneview | rs11644721 |
| scholar | rs11644721 |
| rs11644721 | |
| pharmgkb | rs11644721 |
| gwascentral | rs11644721 |
| openSNP | rs11644721 |
| 23andMe | rs11644721 |
| SNPshot | rs11644721 |
| SNPdbe | rs11644721 |
| MSV3d | rs11644721 |
| GWAS Ctlg | rs11644721 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs11644721(A;A) rs11644721(T;T) |
| Alt | rs11644721(A;A) rs11644721(T;T) |
| Reference | Rs11644721(C;C) |
| Significance | Pathogenic |
| Disease | Rubinstein-Taybi syndrome |
| Variation | info |
| Gene | CREBBP |
| CLNDBN | Rubinstein-Taybi syndrome |
| Reversed | 0 |
| HGVS | NC_000016.9:g.3901011C>A |
| CLNSRC | |
| CLNACC | RCV000193581.1, |
