rs61751296
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier of a Von Willebrand disease allele |
| (T;T) | 4 | Von Willebrand disease, type 3 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 5969337 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61751296 |
| dbSNP (classic) | rs61751296 |
| ClinGen | rs61751296 |
| ebi | rs61751296 |
| HLI | rs61751296 |
| Exac | rs61751296 |
| Gnomad | rs61751296 |
| Varsome | rs61751296 |
| LitVar | rs61751296 |
| Map | rs61751296 |
| PheGenI | rs61751296 |
| Biobank | rs61751296 |
| 1000 genomes | rs61751296 |
| hgdp | rs61751296 |
| ensembl | rs61751296 |
| geneview | rs61751296 |
| scholar | rs61751296 |
| rs61751296 | |
| pharmgkb | rs61751296 |
| gwascentral | rs61751296 |
| openSNP | rs61751296 |
| 23andMe | rs61751296 |
| SNPshot | rs61751296 |
| SNPdbe | rs61751296 |
| MSV3d | rs61751296 |
| GWAS Ctlg | rs61751296 |
| Max Magnitude | 4 |
rs61751296, also known as c.7603C>T, p.Arg2535Ter and R2535X is a SNP in the VWF gene on chromosome 12.
The rare rs61751296(T) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb.
| ClinVar | |
|---|---|
| Risk | Rs61751296(T;T) |
| Alt | Rs61751296(T;T) |
| Reference | Rs61751296(C;C) |
| Significance | Pathogenic |
| Disease | von Willebrand disease type 3 not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | von Willebrand disease type 3 not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6078503G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000326.2, RCV000086892.1, |
