rs797045500
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045500(-;GCATGCACCAGCAGCCCAGCCTG) |
Make rs797045500(GCATGCACCAGCAGCCCAGCCTG;GCATGCACCAGCAGCCCAGCCTG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 3728629 |
Gene | CREBBP |
is a | snp |
is | mentioned by |
dbSNP | rs797045500 |
dbSNP (classic) | rs797045500 |
ClinGen | rs797045500 |
ebi | rs797045500 |
HLI | rs797045500 |
Exac | rs797045500 |
Gnomad | rs797045500 |
Varsome | rs797045500 |
LitVar | rs797045500 |
Map | rs797045500 |
PheGenI | rs797045500 |
Biobank | rs797045500 |
1000 genomes | rs797045500 |
hgdp | rs797045500 |
ensembl | rs797045500 |
geneview | rs797045500 |
scholar | rs797045500 |
rs797045500 | |
pharmgkb | rs797045500 |
gwascentral | rs797045500 |
openSNP | rs797045500 |
23andMe | rs797045500 |
SNPshot | rs797045500 |
SNPdbe | rs797045500 |
MSV3d | rs797045500 |
GWAS Ctlg | rs797045500 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045500(GCATGCACCAGCAGCCCAGCCTG;GCATGCACCAGCAGCCCAGCCTG) |
Alt | rs797045500(GCATGCACCAGCAGCCCAGCCTG;GCATGCACCAGCAGCCCAGCCTG) |
Reference | Rs797045500(-;-) |
Significance | Pathogenic |
Disease | Rubinstein-Taybi syndrome |
Variation | info |
Gene | CREBBP |
CLNDBN | Rubinstein-Taybi syndrome |
Reversed | 1 |
HGVS | NC_000016.9:g.3778631_3778653dup23 |
CLNSRC | |
CLNACC | RCV000192313.1, |