rs398124139
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398124139(-;-) |
Make rs398124139(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 3781211 |
Gene | CREBBP |
is a | snp |
is | mentioned by |
dbSNP | rs398124139 |
dbSNP (classic) | rs398124139 |
ClinGen | rs398124139 |
ebi | rs398124139 |
HLI | rs398124139 |
Exac | rs398124139 |
Gnomad | rs398124139 |
Varsome | rs398124139 |
LitVar | rs398124139 |
Map | rs398124139 |
PheGenI | rs398124139 |
Biobank | rs398124139 |
1000 genomes | rs398124139 |
hgdp | rs398124139 |
ensembl | rs398124139 |
geneview | rs398124139 |
scholar | rs398124139 |
rs398124139 | |
pharmgkb | rs398124139 |
gwascentral | rs398124139 |
openSNP | rs398124139 |
23andMe | rs398124139 |
SNPshot | rs398124139 |
SNPdbe | rs398124139 |
MSV3d | rs398124139 |
GWAS Ctlg | rs398124139 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124139(-;-) |
Alt | rs398124139(-;-) |
Reference | Rs398124139(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CREBBP |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.3831212delC |
CLNSRC | ClinVar |
CLNACC | RCV000081032.4, |