rs587783479
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587783479(C;T) |
Make rs587783479(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 3758913 |
Gene | CREBBP |
is a | snp |
is | mentioned by |
dbSNP | rs587783479 |
dbSNP (classic) | rs587783479 |
ClinGen | rs587783479 |
ebi | rs587783479 |
HLI | rs587783479 |
Exac | rs587783479 |
Gnomad | rs587783479 |
Varsome | rs587783479 |
LitVar | rs587783479 |
Map | rs587783479 |
PheGenI | rs587783479 |
Biobank | rs587783479 |
1000 genomes | rs587783479 |
hgdp | rs587783479 |
ensembl | rs587783479 |
geneview | rs587783479 |
scholar | rs587783479 |
rs587783479 | |
pharmgkb | rs587783479 |
gwascentral | rs587783479 |
openSNP | rs587783479 |
23andMe | rs587783479 |
SNPshot | rs587783479 |
SNPdbe | rs587783479 |
MSV3d | rs587783479 |
GWAS Ctlg | rs587783479 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783479(T;T) |
Alt | rs587783479(T;T) |
Reference | Rs587783479(C;C) |
Significance | Pathogenic |
Disease | Rubinstein-Taybi syndrome |
Variation | info |
Gene | CREBBP |
CLNDBN | Rubinstein-Taybi syndrome |
Reversed | 1 |
HGVS | NC_000016.9:g.3808914G>A |
CLNSRC | |
CLNACC | RCV000145735.1, |