rs112901682
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
| Make rs112901682(C;T) |
| Make rs112901682(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 88948816 |
| Gene | ACTA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs112901682 |
| dbSNP (classic) | rs112901682 |
| ClinGen | rs112901682 |
| ebi | rs112901682 |
| HLI | rs112901682 |
| Exac | rs112901682 |
| Gnomad | rs112901682 |
| Varsome | rs112901682 |
| LitVar | rs112901682 |
| Map | rs112901682 |
| PheGenI | rs112901682 |
| Biobank | rs112901682 |
| 1000 genomes | rs112901682 |
| hgdp | rs112901682 |
| ensembl | rs112901682 |
| geneview | rs112901682 |
| scholar | rs112901682 |
| rs112901682 | |
| pharmgkb | rs112901682 |
| gwascentral | rs112901682 |
| openSNP | rs112901682 |
| 23andMe | rs112901682 |
| SNPshot | rs112901682 |
| SNPdbe | rs112901682 |
| MSV3d | rs112901682 |
| GWAS Ctlg | rs112901682 |
| Max Magnitude | 6.5 |
| ClinVar | |
|---|---|
| Risk | rs112901682(G;G) rs112901682(T;T) |
| Alt | rs112901682(G;G) rs112901682(T;T) |
| Reference | Rs112901682(C;C) |
| Significance | Pathogenic |
| Disease | Aortic aneurysm Thoracic aortic aneurysm and aortic dissection not provided |
| Variation | info |
| Gene | ACTA2 STAMBPL1 |
| CLNDBN | Aortic aneurysm, familial thoracic 6 Thoracic aortic aneurysm and aortic dissection not provided |
| Reversed | 1 |
| HGVS | NC_000010.10:g.90708573G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000055647.27, RCV000143866.1, RCV000490091.1, |
