rs863223754
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;C) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
Make rs863223754(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 67184845 |
Gene | SMAD3 |
is a | snp |
is | mentioned by |
dbSNP | rs863223754 |
dbSNP (classic) | rs863223754 |
ClinGen | rs863223754 |
ebi | rs863223754 |
HLI | rs863223754 |
Exac | rs863223754 |
Gnomad | rs863223754 |
Varsome | rs863223754 |
LitVar | rs863223754 |
Map | rs863223754 |
PheGenI | rs863223754 |
Biobank | rs863223754 |
1000 genomes | rs863223754 |
hgdp | rs863223754 |
ensembl | rs863223754 |
geneview | rs863223754 |
scholar | rs863223754 |
rs863223754 | |
pharmgkb | rs863223754 |
gwascentral | rs863223754 |
openSNP | rs863223754 |
23andMe | rs863223754 |
SNPshot | rs863223754 |
SNPdbe | rs863223754 |
MSV3d | rs863223754 |
GWAS Ctlg | rs863223754 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs863223754(C;C) |
Alt | rs863223754(C;C) |
Reference | Rs863223754(-;-) |
Significance | Pathogenic |
Disease | Thoracic aortic aneurysm and aortic dissection |
Variation | info |
Gene | SMAD3 |
CLNDBN | Thoracic aortic aneurysm and aortic dissection |
Reversed | 0 |
HGVS | NC_000015.9:g.67477183dupC |
CLNSRC | |
CLNACC | RCV000465646.1, |