rs111984349
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs111984349(C;T) |
| Make rs111984349(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 15 |
| Position | 48415759 |
| Gene | FBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111984349 |
| dbSNP (classic) | rs111984349 |
| ClinGen | rs111984349 |
| ebi | rs111984349 |
| HLI | rs111984349 |
| Exac | rs111984349 |
| Gnomad | rs111984349 |
| Varsome | rs111984349 |
| LitVar | rs111984349 |
| Map | rs111984349 |
| PheGenI | rs111984349 |
| Biobank | rs111984349 |
| 1000 genomes | rs111984349 |
| hgdp | rs111984349 |
| ensembl | rs111984349 |
| geneview | rs111984349 |
| scholar | rs111984349 |
| rs111984349 | |
| pharmgkb | rs111984349 |
| gwascentral | rs111984349 |
| openSNP | rs111984349 |
| 23andMe | rs111984349 |
| SNPshot | rs111984349 |
| SNPdbe | rs111984349 |
| MSV3d | rs111984349 |
| GWAS Ctlg | rs111984349 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111984349(T;T) |
| Alt | rs111984349(T;T) |
| Reference | Rs111984349(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Thoracic aortic aneurysm and aortic dissection |
| Variation | info |
| Gene | FBN1 |
| CLNDBN | Thoracic aortic aneurysm and aortic dissection |
| Reversed | 0 |
| HGVS | NC_000015.9:g.48707956C>T |
| CLNSRC | |
| CLNACC | RCV000253245.1, |
