rs35874463
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs35874463(A;G) |
| Make rs35874463(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 67165360 |
| Gene | SMAD3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35874463 |
| dbSNP (classic) | rs35874463 |
| ClinGen | rs35874463 |
| ebi | rs35874463 |
| HLI | rs35874463 |
| Exac | rs35874463 |
| Gnomad | rs35874463 |
| Varsome | rs35874463 |
| LitVar | rs35874463 |
| Map | rs35874463 |
| PheGenI | rs35874463 |
| Biobank | rs35874463 |
| 1000 genomes | rs35874463 |
| hgdp | rs35874463 |
| ensembl | rs35874463 |
| geneview | rs35874463 |
| scholar | rs35874463 |
| rs35874463 | |
| pharmgkb | rs35874463 |
| gwascentral | rs35874463 |
| openSNP | rs35874463 |
| 23andMe | rs35874463 |
| SNPshot | rs35874463 |
| SNPdbe | rs35874463 |
| MSV3d | rs35874463 |
| GWAS Ctlg | rs35874463 |
| Max Magnitude | 0 |
[PMID 26110764
] Characterization of SMAD3 Gene Variants for Possible Roles in Ventricular Septal Defects and Other Congenital Heart Diseases
| ClinVar | |
|---|---|
| Risk | rs35874463(G;G) |
| Alt | rs35874463(G;G) |
| Reference | Rs35874463(A;A) |
| Significance | Other |
| Disease | not specified Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome |
| Variation | info |
| Gene | SMAD3 |
| CLNDBN | not specified Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome |
| Reversed | 0 |
| HGVS | NC_000015.9:g.67457698A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000128164.6, RCV000246765.2, RCV000405224.1, |
