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, | 


