rs61749393
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3 | Von Willebrand disease, type 2B |
| (C;G) | 3 | Von Willebrand disease, type 2B |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6019478 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61749393 |
| dbSNP (classic) | rs61749393 |
| ClinGen | rs61749393 |
| ebi | rs61749393 |
| HLI | rs61749393 |
| Exac | rs61749393 |
| Gnomad | rs61749393 |
| Varsome | rs61749393 |
| LitVar | rs61749393 |
| Map | rs61749393 |
| PheGenI | rs61749393 |
| Biobank | rs61749393 |
| 1000 genomes | rs61749393 |
| hgdp | rs61749393 |
| ensembl | rs61749393 |
| geneview | rs61749393 |
| scholar | rs61749393 |
| rs61749393 | |
| pharmgkb | rs61749393 |
| gwascentral | rs61749393 |
| openSNP | rs61749393 |
| 23andMe | rs61749393 |
| SNPshot | rs61749393 |
| SNPdbe | rs61749393 |
| MSV3d | rs61749393 |
| GWAS Ctlg | rs61749393 |
| Max Magnitude | 3 |
rs61749393, also known as c.3940G>C, p.Val1314Leu and V1314L, is a SNP in the VWF gene on chromosome 12.
The rare rs61749393(C) allele is considered pathogenic for Von Willebrand disease, type 2B, according to ClinVar and the VWFdb.
This SNP is also referred to as i5049258 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs61749393(C;C) rs61749393(T;T) |
| Alt | Rs61749393(C;C) rs61749393(T;T) |
| Reference | Rs61749393(G;G) |
| Significance | Pathogenic |
| Disease | not provided Von Willebrand disease |
| Variation | info |
| Gene | VWF |
| CLNDBN | not provided von Willebrand disease, type 2b |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6128644C>A; NC_000012.11:g.6128644C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000086710.1, RCV000000329.2, RCV000087017.1, |
