rs869025494
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869025494(C;T) |
Make rs869025494(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 136517851 |
Gene | NOTCH1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025494 |
dbSNP (classic) | rs869025494 |
ClinGen | rs869025494 |
ebi | rs869025494 |
HLI | rs869025494 |
Exac | rs869025494 |
Gnomad | rs869025494 |
Varsome | rs869025494 |
LitVar | rs869025494 |
Map | rs869025494 |
PheGenI | rs869025494 |
Biobank | rs869025494 |
1000 genomes | rs869025494 |
hgdp | rs869025494 |
ensembl | rs869025494 |
geneview | rs869025494 |
scholar | rs869025494 |
rs869025494 | |
pharmgkb | rs869025494 |
gwascentral | rs869025494 |
openSNP | rs869025494 |
23andMe | rs869025494 |
SNPshot | rs869025494 |
SNPdbe | rs869025494 |
MSV3d | rs869025494 |
GWAS Ctlg | rs869025494 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025494(T;T) |
Alt | rs869025494(T;T) |
Reference | Rs869025494(C;C) |
Significance | Probable-Pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | NOTCH1 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection |
Reversed | 1 |
HGVS | NC_000009.11:g.139412303G>A |
CLNSRC | |
CLNACC | RCV000208487.1, |