rs753486471
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
(C;C) | 0 | common in clinvar |
Make rs753486471(A;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 67181379 |
Gene | SMAD3 |
is a | snp |
is | mentioned by |
dbSNP | rs753486471 |
dbSNP (classic) | rs753486471 |
ClinGen | rs753486471 |
ebi | rs753486471 |
HLI | rs753486471 |
Exac | rs753486471 |
Gnomad | rs753486471 |
Varsome | rs753486471 |
LitVar | rs753486471 |
Map | rs753486471 |
PheGenI | rs753486471 |
Biobank | rs753486471 |
1000 genomes | rs753486471 |
hgdp | rs753486471 |
ensembl | rs753486471 |
geneview | rs753486471 |
scholar | rs753486471 |
rs753486471 | |
pharmgkb | rs753486471 |
gwascentral | rs753486471 |
openSNP | rs753486471 |
23andMe | rs753486471 |
SNPshot | rs753486471 |
SNPdbe | rs753486471 |
MSV3d | rs753486471 |
GWAS Ctlg | rs753486471 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs753486471(A;A) rs753486471(T;T) |
Alt | rs753486471(A;A) rs753486471(T;T) |
Reference | Rs753486471(C;C) |
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.67473717C>A |
CLNSRC | |
CLNACC | RCV000468525.1, |