rs2363337
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 3 | Von Willebrand disease, type 1 (likely) |
| (T;T) | 3 | Von Willebrand disease, type 1 (likely) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 12 |
| Position | 6023630 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2363337 |
| dbSNP (classic) | rs2363337 |
| ClinGen | rs2363337 |
| ebi | rs2363337 |
| HLI | rs2363337 |
| Exac | rs2363337 |
| Gnomad | rs2363337 |
| Varsome | rs2363337 |
| LitVar | rs2363337 |
| Map | rs2363337 |
| PheGenI | rs2363337 |
| Biobank | rs2363337 |
| 1000 genomes | rs2363337 |
| hgdp | rs2363337 |
| ensembl | rs2363337 |
| geneview | rs2363337 |
| scholar | rs2363337 |
| rs2363337 | |
| pharmgkb | rs2363337 |
| gwascentral | rs2363337 |
| openSNP | rs2363337 |
| 23andMe | rs2363337 |
| SNPshot | rs2363337 |
| SNPdbe | rs2363337 |
| MSV3d | rs2363337 |
| GWAS Ctlg | rs2363337 |
| Max Magnitude | 3 |
rs2363337, also known as c.3379+1G>A, is a SNP in the VWF gene on chromosome 12.
The rarer rs2363337(T) allele is considered likely to cause Von Willebrand disease, type 1, according to one publication.[PMID 17080221]
| ClinVar | |
|---|---|
| Risk | Rs2363337(T;T) |
| Alt | Rs2363337(T;T) |
| Reference | Rs2363337(C;C) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.6132796C>T |
| CLNSRC | |
| CLNACC | RCV000086650.1, |
