rs757106110
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
| Make rs757106110(A;A) |
| Make rs757106110(A;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 15 |
| Position | 67187457 |
| Gene | SMAD3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs757106110 |
| dbSNP (classic) | rs757106110 |
| ClinGen | rs757106110 |
| ebi | rs757106110 |
| HLI | rs757106110 |
| Exac | rs757106110 |
| Gnomad | rs757106110 |
| Varsome | rs757106110 |
| LitVar | rs757106110 |
| Map | rs757106110 |
| PheGenI | rs757106110 |
| Biobank | rs757106110 |
| 1000 genomes | rs757106110 |
| hgdp | rs757106110 |
| ensembl | rs757106110 |
| geneview | rs757106110 |
| scholar | rs757106110 |
| rs757106110 | |
| pharmgkb | rs757106110 |
| gwascentral | rs757106110 |
| openSNP | rs757106110 |
| 23andMe | rs757106110 |
| SNPshot | rs757106110 |
| SNPdbe | rs757106110 |
| MSV3d | rs757106110 |
| GWAS Ctlg | rs757106110 |
| Max Magnitude | 6.5 |
| ClinVar | |
|---|---|
| Risk | rs757106110(A;A) rs757106110(T;T) |
| Alt | rs757106110(A;A) rs757106110(T;T) |
| Reference | Rs757106110(C;C) |
| Significance | Pathogenic |
| Disease | Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome not specified not provided |
| Variation | info |
| Gene | SMAD3 |
| CLNDBN | Thoracic aortic aneurysm and aortic dissection Loeys-Dietz syndrome not specified not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.67479795C>A; NC_000015.9:g.67479795C>T |
| CLNSRC | |
| CLNACC | RCV000245579.2, RCV000407831.1, RCV000443084.1, RCV000478284.1, |
