rs760079636
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs760079636(A;A) |
| Make rs760079636(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 99142664 |
| Gene | TGFBR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs760079636 |
| dbSNP (classic) | rs760079636 |
| ClinGen | rs760079636 |
| ebi | rs760079636 |
| HLI | rs760079636 |
| Exac | rs760079636 |
| Gnomad | rs760079636 |
| Varsome | rs760079636 |
| LitVar | rs760079636 |
| Map | rs760079636 |
| PheGenI | rs760079636 |
| Biobank | rs760079636 |
| 1000 genomes | rs760079636 |
| hgdp | rs760079636 |
| ensembl | rs760079636 |
| geneview | rs760079636 |
| scholar | rs760079636 |
| rs760079636 | |
| pharmgkb | rs760079636 |
| gwascentral | rs760079636 |
| openSNP | rs760079636 |
| 23andMe | rs760079636 |
| SNPshot | rs760079636 |
| SNPdbe | rs760079636 |
| MSV3d | rs760079636 |
| GWAS Ctlg | rs760079636 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs760079636(A;A) |
| Alt | rs760079636(A;A) |
| Reference | Rs760079636(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection |
| Variation | info |
| Gene | TGFBR1 |
| CLNDBN | not provided Loeys-Dietz syndrome Thoracic aortic aneurysm and aortic dissection |
| Reversed | 0 |
| HGVS | NC_000009.11:g.101904946G>A |
| CLNSRC | |
| CLNACC | RCV000199247.2, RCV000208245.1, RCV000246328.1, |
