rs11644721
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs11644721(C;T) |
Make rs11644721(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 3851010 |
Gene | CREBBP |
is a | snp |
is | mentioned by |
dbSNP | rs11644721 |
dbSNP (classic) | rs11644721 |
ClinGen | rs11644721 |
ebi | rs11644721 |
HLI | rs11644721 |
Exac | rs11644721 |
Gnomad | rs11644721 |
Varsome | rs11644721 |
LitVar | rs11644721 |
Map | rs11644721 |
PheGenI | rs11644721 |
Biobank | rs11644721 |
1000 genomes | rs11644721 |
hgdp | rs11644721 |
ensembl | rs11644721 |
geneview | rs11644721 |
scholar | rs11644721 |
rs11644721 | |
pharmgkb | rs11644721 |
gwascentral | rs11644721 |
openSNP | rs11644721 |
23andMe | rs11644721 |
SNPshot | rs11644721 |
SNPdbe | rs11644721 |
MSV3d | rs11644721 |
GWAS Ctlg | rs11644721 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs11644721(A;A) rs11644721(T;T) |
Alt | rs11644721(A;A) rs11644721(T;T) |
Reference | Rs11644721(C;C) |
Significance | Pathogenic |
Disease | Rubinstein-Taybi syndrome |
Variation | info |
Gene | CREBBP |
CLNDBN | Rubinstein-Taybi syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.3901011C>A |
CLNSRC | |
CLNACC | RCV000193581.1, |