rs61750579
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | Von Willebrand disease, type 2A |
| (A;T) | 3.5 | von Willebrand disease |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6018598 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61750579 |
| dbSNP (classic) | rs61750579 |
| ClinGen | rs61750579 |
| ebi | rs61750579 |
| HLI | rs61750579 |
| Exac | rs61750579 |
| Gnomad | rs61750579 |
| Varsome | rs61750579 |
| LitVar | rs61750579 |
| Map | rs61750579 |
| PheGenI | rs61750579 |
| Biobank | rs61750579 |
| 1000 genomes | rs61750579 |
| hgdp | rs61750579 |
| ensembl | rs61750579 |
| geneview | rs61750579 |
| scholar | rs61750579 |
| rs61750579 | |
| pharmgkb | rs61750579 |
| gwascentral | rs61750579 |
| openSNP | rs61750579 |
| 23andMe | rs61750579 |
| SNPshot | rs61750579 |
| SNPdbe | rs61750579 |
| MSV3d | rs61750579 |
| GWAS Ctlg | rs61750579 |
| Max Magnitude | 3.5 |
rs61750579, also known as c.4820T>A, p.Val1607Asp and V1607D, is a SNP in the VWF gene on chromosome 12.
The rare rs61750579(A) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.
This SNP is referred to as i5049266 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs61750579(A;A) |
| Alt | Rs61750579(A;A) |
| Reference | Rs61750579(T;T) |
| Significance | Pathogenic |
| Disease | Von Willebrand disease not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | von Willebrand disease, type 2a not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6127764A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000310.2, RCV000086803.1, |
