rs794728194
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6.5 | Familial thoracic aortic aneurysms and dissections (FTAAD) |
| (C;G) | 5.5 | Marfan syndrome mutation |
| (G;G) | 0 | common in clinvar |
| Make rs794728194(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 15 |
| Position | 48495162 |
| Gene | FBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794728194 |
| dbSNP (classic) | rs794728194 |
| ClinGen | rs794728194 |
| ebi | rs794728194 |
| HLI | rs794728194 |
| Exac | rs794728194 |
| Gnomad | rs794728194 |
| Varsome | rs794728194 |
| LitVar | rs794728194 |
| Map | rs794728194 |
| PheGenI | rs794728194 |
| Biobank | rs794728194 |
| 1000 genomes | rs794728194 |
| hgdp | rs794728194 |
| ensembl | rs794728194 |
| geneview | rs794728194 |
| scholar | rs794728194 |
| rs794728194 | |
| pharmgkb | rs794728194 |
| gwascentral | rs794728194 |
| openSNP | rs794728194 |
| 23andMe | rs794728194 |
| SNPshot | rs794728194 |
| SNPdbe | rs794728194 |
| MSV3d | rs794728194 |
| GWAS Ctlg | rs794728194 |
| Max Magnitude | 6.5 |
| ClinVar | |
|---|---|
| Risk | rs794728194(A;A) rs794728194(C;C) |
| Alt | rs794728194(A;A) rs794728194(C;C) |
| Reference | Rs794728194(G;G) |
| Significance | Pathogenic |
| Disease | Marfan syndrome |
| Variation | info |
| Gene | FBN1 |
| CLNDBN | Marfan syndrome |
| Reversed | 1 |
| HGVS | NC_000015.9:g.48787359C>G |
| CLNSRC | |
| CLNACC | RCV000457187.1, |
