rs61750612
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Von Willebrand disease; carrier or Type 1 |
| (T;T) | 4 | Von Willebrand disease, type 3 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6013544 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61750612 |
| dbSNP (classic) | rs61750612 |
| ClinGen | rs61750612 |
| ebi | rs61750612 |
| HLI | rs61750612 |
| Exac | rs61750612 |
| Gnomad | rs61750612 |
| Varsome | rs61750612 |
| LitVar | rs61750612 |
| Map | rs61750612 |
| PheGenI | rs61750612 |
| Biobank | rs61750612 |
| 1000 genomes | rs61750612 |
| hgdp | rs61750612 |
| ensembl | rs61750612 |
| geneview | rs61750612 |
| scholar | rs61750612 |
| rs61750612 | |
| pharmgkb | rs61750612 |
| gwascentral | rs61750612 |
| openSNP | rs61750612 |
| 23andMe | rs61750612 |
| SNPshot | rs61750612 |
| SNPdbe | rs61750612 |
| MSV3d | rs61750612 |
| GWAS Ctlg | rs61750612 |
| Max Magnitude | 4 |
rs61750612, also known as c.5557C>T, p.Arg1853Ter, R1852X and R1853X, is a SNP in the VWF gene on chromosome 12.
The rare rs61750612(T) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb, at least when homozygous or compound heterozygous. It is possible that on it's own this allele leads to Type 1 Von Willebrand disease.
This SNP is also referred to as i5049228 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs61750612(T;T) |
| Alt | Rs61750612(T;T) |
| Reference | Rs61750612(C;C) |
| Significance | Pathogenic |
| Disease | von Willebrand disease type 3 von Willebrand disease type 1 not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | von Willebrand disease type 3 von Willebrand disease type 1 not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6122710G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000324.3, RCV000000325.3, RCV000086843.1, |
