rs216293
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs216293(G;T) |
| Make rs216293(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6044493 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs216293 |
| dbSNP (classic) | rs216293 |
| ClinGen | rs216293 |
| ebi | rs216293 |
| HLI | rs216293 |
| Exac | rs216293 |
| Gnomad | rs216293 |
| Varsome | rs216293 |
| LitVar | rs216293 |
| Map | rs216293 |
| PheGenI | rs216293 |
| Biobank | rs216293 |
| 1000 genomes | rs216293 |
| hgdp | rs216293 |
| ensembl | rs216293 |
| geneview | rs216293 |
| scholar | rs216293 |
| rs216293 | |
| pharmgkb | rs216293 |
| gwascentral | rs216293 |
| openSNP | rs216293 |
| 23andMe | rs216293 |
| SNPshot | rs216293 |
| SNPdbe | rs216293 |
| MSV3d | rs216293 |
| GWAS Ctlg | rs216293 |
| GMAF | 0.472 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20940418] Variation in the von Willebrand Factor gene is associated with VWF levels and with the risk of cardiovascular disease
[PMID 22875612
] A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.
| ClinVar | |
|---|---|
| Risk | rs216293(C;C) rs216293(T;T) |
| Alt | rs216293(C;C) rs216293(T;T) |
| Reference | Rs216293(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | VWF |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000012.11:g.6153659G>T |
| CLNSRC | |
| CLNACC | RCV000247469.1, |
