rs778220779
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a homocystinuria mutation |
| Make rs778220779(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 21 |
| Position | 43066369 |
| Gene | CBS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs778220779 |
| dbSNP (classic) | rs778220779 |
| ClinGen | rs778220779 |
| ebi | rs778220779 |
| HLI | rs778220779 |
| Exac | rs778220779 |
| Gnomad | rs778220779 |
| Varsome | rs778220779 |
| LitVar | rs778220779 |
| Map | rs778220779 |
| PheGenI | rs778220779 |
| Biobank | rs778220779 |
| 1000 genomes | rs778220779 |
| hgdp | rs778220779 |
| ensembl | rs778220779 |
| geneview | rs778220779 |
| scholar | rs778220779 |
| rs778220779 | |
| pharmgkb | rs778220779 |
| gwascentral | rs778220779 |
| openSNP | rs778220779 |
| 23andMe | rs778220779 |
| SNPshot | rs778220779 |
| SNPdbe | rs778220779 |
| MSV3d | rs778220779 |
| GWAS Ctlg | rs778220779 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs778220779(G;G) |
| Alt | rs778220779(G;G) |
| Reference | Rs778220779(A;A) |
| Significance | Pathogenic |
| Disease | not provided Thoracic aortic aneurysm and aortic dissection |
| Variation | info |
| Gene | CBSL CBS |
| CLNDBN | not provided Thoracic aortic aneurysm and aortic dissection |
| Reversed | 0 |
| HGVS | NC_000021.8:g.44486479A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000199752.1, RCV000248928.1, |
