rs397516683
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs397516683(C;T) |
| Make rs397516683(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 10 |
| Position | 88941820 |
| Gene | ACTA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397516683 |
| dbSNP (classic) | rs397516683 |
| ClinGen | rs397516683 |
| ebi | rs397516683 |
| HLI | rs397516683 |
| Exac | rs397516683 |
| Gnomad | rs397516683 |
| Varsome | rs397516683 |
| LitVar | rs397516683 |
| Map | rs397516683 |
| PheGenI | rs397516683 |
| Biobank | rs397516683 |
| 1000 genomes | rs397516683 |
| hgdp | rs397516683 |
| ensembl | rs397516683 |
| geneview | rs397516683 |
| scholar | rs397516683 |
| rs397516683 | |
| pharmgkb | rs397516683 |
| gwascentral | rs397516683 |
| openSNP | rs397516683 |
| 23andMe | rs397516683 |
| SNPshot | rs397516683 |
| SNPdbe | rs397516683 |
| MSV3d | rs397516683 |
| GWAS Ctlg | rs397516683 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397516683(T;T) |
| Alt | rs397516683(T;T) |
| Reference | Rs397516683(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not specified Thoracic aortic aneurysm and aortic dissection not provided |
| Variation | info |
| Gene | ACTA2 STAMBPL1 |
| CLNDBN | not specified Thoracic aortic aneurysm and aortic dissection not provided |
| Reversed | 1 |
| HGVS | NC_000010.10:g.90701577G>A |
| CLNSRC | |
| CLNACC | RCV000037195.2, RCV000157091.3, RCV000211885.1, |
