rs41276738
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier of a Von Willebrand disease allele |
| (T;T) | 4 | Von Willebrand disease, type 1 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6034812 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41276738 |
| dbSNP (classic) | rs41276738 |
| ClinGen | rs41276738 |
| ebi | rs41276738 |
| HLI | rs41276738 |
| Exac | rs41276738 |
| Gnomad | rs41276738 |
| Varsome | rs41276738 |
| LitVar | rs41276738 |
| Map | rs41276738 |
| PheGenI | rs41276738 |
| Biobank | rs41276738 |
| 1000 genomes | rs41276738 |
| hgdp | rs41276738 |
| ensembl | rs41276738 |
| geneview | rs41276738 |
| scholar | rs41276738 |
| rs41276738 | |
| pharmgkb | rs41276738 |
| gwascentral | rs41276738 |
| openSNP | rs41276738 |
| 23andMe | rs41276738 |
| SNPshot | rs41276738 |
| SNPdbe | rs41276738 |
| MSV3d | rs41276738 |
| GWAS Ctlg | rs41276738 |
| GMAF | 0.001377 |
| Max Magnitude | 4 |
rs41276738, also known as c.2561G>A, p.Arg854Gln and R854Q, is a SNP in the VWF gene on chromosome 12.
The rare rs41276738(T) allele (in SNPedia orientation) is considered pathogenic for Von Willebrand disease, type 1, according to ClinVar and the VWFdb.
This SNP is also referred to as i5049144 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs41276738(T;T) |
| Alt | Rs41276738(T;T) |
| Reference | Rs41276738(C;C) |
| Significance | Pathogenic |
| Disease | von Willebrand disease type 2N von Willebrand disease type 1 not provided von Willebrand disorder von Willebrand disease type 2 |
| Variation | info |
| Gene | VWF |
| CLNDBN | von Willebrand disease type 2N von Willebrand disease type 1 not provided von Willebrand disorder von Willebrand disease type 2 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.6143978C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000320.2, RCV000000321.2, RCV000086620.2, RCV000169683.2, RCV000336497.1, |
