rs61748467
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | Von Willebrand disease, type 1 |
| (A;G) | 3.5 | von Willebrand disease |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6046725 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61748467 |
| dbSNP (classic) | rs61748467 |
| ClinGen | rs61748467 |
| ebi | rs61748467 |
| HLI | rs61748467 |
| Exac | rs61748467 |
| Gnomad | rs61748467 |
| Varsome | rs61748467 |
| LitVar | rs61748467 |
| Map | rs61748467 |
| PheGenI | rs61748467 |
| Biobank | rs61748467 |
| 1000 genomes | rs61748467 |
| hgdp | rs61748467 |
| ensembl | rs61748467 |
| geneview | rs61748467 |
| scholar | rs61748467 |
| rs61748467 | |
| pharmgkb | rs61748467 |
| gwascentral | rs61748467 |
| openSNP | rs61748467 |
| 23andMe | rs61748467 |
| SNPshot | rs61748467 |
| SNPdbe | rs61748467 |
| MSV3d | rs61748467 |
| GWAS Ctlg | rs61748467 |
| Max Magnitude | 3.5 |
rs61748467, also known as c.2279G>A, p.Arg760His and R760H, is a SNP in the VWF gene on chromosome 12.
The rare rs61748467(A) allele is considered pathogenic for Von Willebrand disease, type 1, according to ClinVar and the VWFdb.
| ClinVar | |
|---|---|
| Risk | Rs61748467(A;A) |
| Alt | Rs61748467(A;A) |
| Reference | Rs61748467(G;G) |
| Significance | Pathogenic |
| Disease | von Willebrand disease type 1 not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | von Willebrand disease type 1 not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6155891C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000024003.3, RCV000086595.1, |
