rs267607353
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 4 | Von Willebrand disease, type 2CB |
| (G;T) | 3.5 | von Willebrand disease |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6016197 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267607353 |
| dbSNP (classic) | rs267607353 |
| ClinGen | rs267607353 |
| ebi | rs267607353 |
| HLI | rs267607353 |
| Exac | rs267607353 |
| Gnomad | rs267607353 |
| Varsome | rs267607353 |
| LitVar | rs267607353 |
| Map | rs267607353 |
| PheGenI | rs267607353 |
| Biobank | rs267607353 |
| 1000 genomes | rs267607353 |
| hgdp | rs267607353 |
| ensembl | rs267607353 |
| geneview | rs267607353 |
| scholar | rs267607353 |
| rs267607353 | |
| pharmgkb | rs267607353 |
| gwascentral | rs267607353 |
| openSNP | rs267607353 |
| 23andMe | rs267607353 |
| SNPshot | rs267607353 |
| SNPdbe | rs267607353 |
| MSV3d | rs267607353 |
| GWAS Ctlg | rs267607353 |
| Max Magnitude | 4 |
rs267607353, also known as c.5347T>G, p.Ser1783Ala is a SNP in the VWF gene on chromosome 12.
The rare rs267607353(G) allele is considered pathogenic for Von Willebrand disease, type 2CB, according to ClinVar and the VWFdb.
This SNP is referred to as i5049344 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs267607353(G;G) |
| Alt | Rs267607353(G;G) |
| Reference | Rs267607353(T;T) |
| Significance | Pathogenic |
| Disease | von Willebrand disease type 2 not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | von Willebrand disease type 2 not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6125363A>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000024004.3, RCV000086836.1, |
