rs112911555
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs112911555(C;T) |
| Make rs112911555(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 15 |
| Position | 48490072 |
| Gene | FBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs112911555 |
| dbSNP (classic) | rs112911555 |
| ClinGen | rs112911555 |
| ebi | rs112911555 |
| HLI | rs112911555 |
| Exac | rs112911555 |
| Gnomad | rs112911555 |
| Varsome | rs112911555 |
| LitVar | rs112911555 |
| Map | rs112911555 |
| PheGenI | rs112911555 |
| Biobank | rs112911555 |
| 1000 genomes | rs112911555 |
| hgdp | rs112911555 |
| ensembl | rs112911555 |
| geneview | rs112911555 |
| scholar | rs112911555 |
| rs112911555 | |
| pharmgkb | rs112911555 |
| gwascentral | rs112911555 |
| openSNP | rs112911555 |
| 23andMe | rs112911555 |
| SNPshot | rs112911555 |
| SNPdbe | rs112911555 |
| MSV3d | rs112911555 |
| GWAS Ctlg | rs112911555 |
| Merged from | Rs794728198 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs112911555(T;T) |
| Alt | rs112911555(T;T) |
| Reference | Rs112911555(C;C) |
| Significance | Pathogenic |
| Disease | not provided Marfan syndrome Thoracic aortic aneurysm and aortic dissection |
| Variation | info |
| Gene | FBN1 |
| CLNDBN | not provided Marfan syndrome Thoracic aortic aneurysm and aortic dissection |
| Reversed | 0 |
| HGVS | NC_000015.9:g.48782269C>T |
| CLNSRC | |
| CLNACC | RCV000181469.1, RCV000208533.1, RCV000253911.1, |
