rs61748511
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3 | Von Willebrand disease, type 1 |
| (C;T) | 3.5 | von Willebrand disease |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6022833 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61748511 |
| dbSNP (classic) | rs61748511 |
| ClinGen | rs61748511 |
| ebi | rs61748511 |
| HLI | rs61748511 |
| Exac | rs61748511 |
| Gnomad | rs61748511 |
| Varsome | rs61748511 |
| LitVar | rs61748511 |
| Map | rs61748511 |
| PheGenI | rs61748511 |
| Biobank | rs61748511 |
| 1000 genomes | rs61748511 |
| hgdp | rs61748511 |
| ensembl | rs61748511 |
| geneview | rs61748511 |
| scholar | rs61748511 |
| rs61748511 | |
| pharmgkb | rs61748511 |
| gwascentral | rs61748511 |
| openSNP | rs61748511 |
| 23andMe | rs61748511 |
| SNPshot | rs61748511 |
| SNPdbe | rs61748511 |
| MSV3d | rs61748511 |
| GWAS Ctlg | rs61748511 |
| Max Magnitude | 3.5 |
rs61748511, also known as c.3445T>C, p.Cys1149Arg and C1149R, is a SNP in the VWF gene on chromosome 12.
The rare rs61748511(C) allele is considered pathogenic for Von Willebrand disease, type 1, according to ClinVar and the VWFdb.
This SNP is also referred to as i5004518 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs61748511(C;C) |
| Alt | Rs61748511(C;C) |
| Reference | Rs61748511(T;T) |
| 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.6131999A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000337.3, RCV000086657.1, |
