rs2229446
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2229446(A;A) |
| Make rs2229446(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 5993906 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2229446 |
| dbSNP (classic) | rs2229446 |
| ClinGen | rs2229446 |
| ebi | rs2229446 |
| HLI | rs2229446 |
| Exac | rs2229446 |
| Gnomad | rs2229446 |
| Varsome | rs2229446 |
| LitVar | rs2229446 |
| Map | rs2229446 |
| PheGenI | rs2229446 |
| Biobank | rs2229446 |
| 1000 genomes | rs2229446 |
| hgdp | rs2229446 |
| ensembl | rs2229446 |
| geneview | rs2229446 |
| scholar | rs2229446 |
| rs2229446 | |
| pharmgkb | rs2229446 |
| gwascentral | rs2229446 |
| openSNP | rs2229446 |
| 23andMe | rs2229446 |
| SNPshot | rs2229446 |
| SNPdbe | rs2229446 |
| MSV3d | rs2229446 |
| GWAS Ctlg | rs2229446 |
| Max Magnitude | 0 |
[PMID 25779970
] Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans
| ClinVar | |
|---|---|
| Risk | rs2229446(A;A) |
| Alt | rs2229446(A;A) |
| Reference | Rs2229446(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not provided not specified von Willebrand disorder |
| Variation | info |
| Gene | VWF |
| CLNDBN | not provided not specified von Willebrand disorder |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6103072C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000086855.1, RCV000241790.1, RCV000401548.1, |
