rs130002
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs130002(C;C) |
| Make rs130002(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 3777930 |
| Gene | CREBBP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs130002 |
| dbSNP (classic) | rs130002 |
| ClinGen | rs130002 |
| ebi | rs130002 |
| HLI | rs130002 |
| Exac | rs130002 |
| Gnomad | rs130002 |
| Varsome | rs130002 |
| LitVar | rs130002 |
| Map | rs130002 |
| PheGenI | rs130002 |
| Biobank | rs130002 |
| 1000 genomes | rs130002 |
| hgdp | rs130002 |
| ensembl | rs130002 |
| geneview | rs130002 |
| scholar | rs130002 |
| rs130002 | |
| pharmgkb | rs130002 |
| gwascentral | rs130002 |
| openSNP | rs130002 |
| 23andMe | rs130002 |
| SNPshot | rs130002 |
| SNPdbe | rs130002 |
| MSV3d | rs130002 |
| GWAS Ctlg | rs130002 |
| GMAF | 0.07392 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20689175] Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
[PMID 15830322
] Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.
