rs129974
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs129974(G;T) |
| Make rs129974(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 3745291 |
| Gene | CREBBP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs129974 |
| dbSNP (classic) | rs129974 |
| ClinGen | rs129974 |
| ebi | rs129974 |
| HLI | rs129974 |
| Exac | rs129974 |
| Gnomad | rs129974 |
| Varsome | rs129974 |
| LitVar | rs129974 |
| Map | rs129974 |
| PheGenI | rs129974 |
| Biobank | rs129974 |
| 1000 genomes | rs129974 |
| hgdp | rs129974 |
| ensembl | rs129974 |
| geneview | rs129974 |
| scholar | rs129974 |
| rs129974 | |
| pharmgkb | rs129974 |
| gwascentral | rs129974 |
| openSNP | rs129974 |
| 23andMe | rs129974 |
| SNPshot | rs129974 |
| SNPdbe | rs129974 |
| MSV3d | rs129974 |
| GWAS Ctlg | rs129974 |
| GMAF | 0.05831 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20689175] Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
[PMID 22198373] Possible influence of CREB1, CREBBP and CREM variants on diagnosis and treatment outcome in patients with schizophrenia.
| ClinVar | |
|---|---|
| Risk | rs129974(A;A) rs129974(T;T) |
| Alt | rs129974(A;A) rs129974(T;T) |
| Reference | Rs129974(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | CREBBP |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000016.9:g.3795292G>T |
| CLNSRC | ClinVar University of Chicago |
| CLNACC | RCV000145742.2, |
