rs398124147
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398124147(C;G) |
Make rs398124147(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 3736729 |
Gene | CREBBP |
is a | snp |
is | mentioned by |
dbSNP | rs398124147 |
dbSNP (classic) | rs398124147 |
ClinGen | rs398124147 |
ebi | rs398124147 |
HLI | rs398124147 |
Exac | rs398124147 |
Gnomad | rs398124147 |
Varsome | rs398124147 |
LitVar | rs398124147 |
Map | rs398124147 |
PheGenI | rs398124147 |
Biobank | rs398124147 |
1000 genomes | rs398124147 |
hgdp | rs398124147 |
ensembl | rs398124147 |
geneview | rs398124147 |
scholar | rs398124147 |
rs398124147 | |
pharmgkb | rs398124147 |
gwascentral | rs398124147 |
openSNP | rs398124147 |
23andMe | rs398124147 |
SNPshot | rs398124147 |
SNPdbe | rs398124147 |
MSV3d | rs398124147 |
GWAS Ctlg | rs398124147 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124147(G;G) |
Alt | rs398124147(G;G) |
Reference | Rs398124147(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | CREBBP |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.3786730G>C |
CLNSRC | ClinVar Emory University |
CLNACC | RCV000081053.4, |