rs61750591
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 3 | Von Willebrand disease, type 1 (likely) |
| (-;T) | 3 | Von Willebrand disease, type 1 (likely) |
| (T;T) | 0 | common/normal |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 12 |
| Position | 6018474 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61750591 |
| dbSNP (classic) | rs61750591 |
| ClinGen | rs61750591 |
| ebi | rs61750591 |
| HLI | rs61750591 |
| Exac | rs61750591 |
| Gnomad | rs61750591 |
| Varsome | rs61750591 |
| LitVar | rs61750591 |
| Map | rs61750591 |
| PheGenI | rs61750591 |
| Biobank | rs61750591 |
| 1000 genomes | rs61750591 |
| hgdp | rs61750591 |
| ensembl | rs61750591 |
| geneview | rs61750591 |
| scholar | rs61750591 |
| rs61750591 | |
| pharmgkb | rs61750591 |
| gwascentral | rs61750591 |
| openSNP | rs61750591 |
| 23andMe | rs61750591 |
| SNPshot | rs61750591 |
| SNPdbe | rs61750591 |
| MSV3d | rs61750591 |
| GWAS Ctlg | rs61750591 |
| Max Magnitude | 3 |
rs61750591, also known as c.4944delT, p.Ile1649Serfs and p.1648fsX45, is a SNP in the VWF gene on chromosome 12.
The rarer rs61750591(-) deletion allele is considered likely to cause Von Willebrand disease, type 1, according to one publication.[PMID 17080221]
This SNP appears to be referred to as i5039448 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs61750591(-;-) |
| Alt | Rs61750591(-;-) |
| Reference | Rs61750591(T;T) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6127640delA |
| CLNSRC | |
| CLNACC | RCV000086816.1, |
