rs61749397
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | Von Willebrand disease, type 2B |
| (A;G) | 3.5 | von Willebrand disease |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6019472 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61749397 |
| dbSNP (classic) | rs61749397 |
| ClinGen | rs61749397 |
| ebi | rs61749397 |
| HLI | rs61749397 |
| Exac | rs61749397 |
| Gnomad | rs61749397 |
| Varsome | rs61749397 |
| LitVar | rs61749397 |
| Map | rs61749397 |
| PheGenI | rs61749397 |
| Biobank | rs61749397 |
| 1000 genomes | rs61749397 |
| hgdp | rs61749397 |
| ensembl | rs61749397 |
| geneview | rs61749397 |
| scholar | rs61749397 |
| rs61749397 | |
| pharmgkb | rs61749397 |
| gwascentral | rs61749397 |
| openSNP | rs61749397 |
| 23andMe | rs61749397 |
| SNPshot | rs61749397 |
| SNPdbe | rs61749397 |
| MSV3d | rs61749397 |
| GWAS Ctlg | rs61749397 |
| Max Magnitude | 3.5 |
rs61749397, also known as c.3946G>A, p.Val1316Met and V1316M, is a SNP in the VWF gene on chromosome 12.
The rare rs61749397(A) allele is considered pathogenic for Von Willebrand disease, type 2B, according to ClinVar and the VWFdb.
This SNP is also referred to as i5049165 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs61749397(A;A) rs61749397(C;C) |
| Alt | Rs61749397(A;A) rs61749397(C;C) |
| Reference | Rs61749397(G;G) |
| Significance | Pathogenic |
| Disease | Von Willebrand disease not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | von Willebrand disease, type 2b not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6128638C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000314.3, RCV000086715.1, |
