rs749497185
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;CT) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
| (CT;CT) | 0 | common in clinvar |
| Make rs749497185(-;-) |
| Make rs749497185(-;TC) |
| Make rs749497185(TC;TC) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 15741512 |
| Gene | MYH11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749497185 |
| dbSNP (classic) | rs749497185 |
| ClinGen | rs749497185 |
| ebi | rs749497185 |
| HLI | rs749497185 |
| Exac | rs749497185 |
| Gnomad | rs749497185 |
| Varsome | rs749497185 |
| LitVar | rs749497185 |
| Map | rs749497185 |
| PheGenI | rs749497185 |
| Biobank | rs749497185 |
| 1000 genomes | rs749497185 |
| hgdp | rs749497185 |
| ensembl | rs749497185 |
| geneview | rs749497185 |
| scholar | rs749497185 |
| rs749497185 | |
| pharmgkb | rs749497185 |
| gwascentral | rs749497185 |
| openSNP | rs749497185 |
| 23andMe | rs749497185 |
| SNPshot | rs749497185 |
| SNPdbe | rs749497185 |
| MSV3d | rs749497185 |
| GWAS Ctlg | rs749497185 |
| Max Magnitude | 6.5 |
| ClinVar | |
|---|---|
| Risk | rs749497185(-;-) |
| Alt | rs749497185(-;-) |
| Reference | Rs749497185(CT;CT) |
| Significance | Pathogenic |
| Disease | Aortic aneurysm |
| Variation | info |
| Gene | MYH11 |
| CLNDBN | Aortic aneurysm, familial thoracic 4 |
| Reversed | 0 |
| HGVS | NC_000016.9:g.15835369_15835370delCT |
| CLNSRC | |
| CLNACC | RCV000193616.1, |
