rs121434527
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 rs121434527(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 88939542 |
| Gene | ACTA2, ACTA2-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434527 |
| dbSNP (classic) | rs121434527 |
| ClinGen | rs121434527 |
| ebi | rs121434527 |
| HLI | rs121434527 |
| Exac | rs121434527 |
| Gnomad | rs121434527 |
| Varsome | rs121434527 |
| LitVar | rs121434527 |
| Map | rs121434527 |
| PheGenI | rs121434527 |
| Biobank | rs121434527 |
| 1000 genomes | rs121434527 |
| hgdp | rs121434527 |
| ensembl | rs121434527 |
| geneview | rs121434527 |
| scholar | rs121434527 |
| rs121434527 | |
| pharmgkb | rs121434527 |
| gwascentral | rs121434527 |
| openSNP | rs121434527 |
| 23andMe | rs121434527 |
| SNPshot | rs121434527 |
| SNPdbe | rs121434527 |
| MSV3d | rs121434527 |
| GWAS Ctlg | rs121434527 |
| Max Magnitude | 6.5 |
| ClinVar | |
|---|---|
| Risk | rs121434527(A;A) |
| Alt | rs121434527(A;A) |
| Reference | Rs121434527(G;G) |
| Significance | Pathogenic |
| Disease | Aortic aneurysm Moyamoya disease 5 not provided |
| Variation | info |
| Gene | ACTA2 STAMBPL1 ACTA2-AS1 |
| CLNDBN | Aortic aneurysm, familial thoracic 6 Moyamoya disease 5 not provided |
| Reversed | 1 |
| HGVS | NC_000010.10:g.90699299C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019939.27, RCV000022435.27, RCV000181027.2, |
