rs797045489
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797045489(C;T) |
Make rs797045489(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 3757982 |
Gene | CREBBP |
is a | snp |
is | mentioned by |
dbSNP | rs797045489 |
dbSNP (classic) | rs797045489 |
ClinGen | rs797045489 |
ebi | rs797045489 |
HLI | rs797045489 |
Exac | rs797045489 |
Gnomad | rs797045489 |
Varsome | rs797045489 |
LitVar | rs797045489 |
Map | rs797045489 |
PheGenI | rs797045489 |
Biobank | rs797045489 |
1000 genomes | rs797045489 |
hgdp | rs797045489 |
ensembl | rs797045489 |
geneview | rs797045489 |
scholar | rs797045489 |
rs797045489 | |
pharmgkb | rs797045489 |
gwascentral | rs797045489 |
openSNP | rs797045489 |
23andMe | rs797045489 |
SNPshot | rs797045489 |
SNPdbe | rs797045489 |
MSV3d | rs797045489 |
GWAS Ctlg | rs797045489 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045489(T;T) |
Alt | rs797045489(T;T) |
Reference | Rs797045489(C;C) |
Significance | Pathogenic |
Disease | Rubinstein-Taybi syndrome |
Variation | info |
Gene | CREBBP |
CLNDBN | Rubinstein-Taybi syndrome |
Reversed | 1 |
HGVS | NC_000016.9:g.3807983G>A |
CLNSRC | |
CLNACC | RCV000192840.1, |