rs112602953
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
| (G;G) | 0 | common in clinvar |
| Make rs112602953(C;C) |
| Make rs112602953(C;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 10 |
| Position | 88943813 |
| Gene | ACTA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs112602953 |
| dbSNP (classic) | rs112602953 |
| ClinGen | rs112602953 |
| ebi | rs112602953 |
| HLI | rs112602953 |
| Exac | rs112602953 |
| Gnomad | rs112602953 |
| Varsome | rs112602953 |
| LitVar | rs112602953 |
| Map | rs112602953 |
| PheGenI | rs112602953 |
| Biobank | rs112602953 |
| 1000 genomes | rs112602953 |
| hgdp | rs112602953 |
| ensembl | rs112602953 |
| geneview | rs112602953 |
| scholar | rs112602953 |
| rs112602953 | |
| pharmgkb | rs112602953 |
| gwascentral | rs112602953 |
| openSNP | rs112602953 |
| 23andMe | rs112602953 |
| SNPshot | rs112602953 |
| SNPdbe | rs112602953 |
| MSV3d | rs112602953 |
| GWAS Ctlg | rs112602953 |
| Max Magnitude | 6.5 |
| ClinVar | |
|---|---|
| Risk | rs112602953(A;A) rs112602953(C;C) |
| Alt | rs112602953(A;A) rs112602953(C;C) |
| Reference | Rs112602953(G;G) |
| Significance | Pathogenic |
| Disease | not provided Aortic aneurysm |
| Variation | info |
| Gene | ACTA2 STAMBPL1 |
| CLNDBN | not provided Aortic aneurysm, familial thoracic 6 |
| Reversed | 1 |
| HGVS | NC_000010.10:g.90703570C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000181019.3, RCV000234479.2, |
