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, |
