rs33978901
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 3 | association with Von Willebrand disease type 1 |
| (T;T) | 3 | association with Von Willebrand disease type 1 |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 12 |
| Position | 6031493 |
| Gene | VWF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33978901 |
| dbSNP (classic) | rs33978901 |
| ClinGen | rs33978901 |
| ebi | rs33978901 |
| HLI | rs33978901 |
| Exac | rs33978901 |
| Gnomad | rs33978901 |
| Varsome | rs33978901 |
| LitVar | rs33978901 |
| Map | rs33978901 |
| PheGenI | rs33978901 |
| Biobank | rs33978901 |
| 1000 genomes | rs33978901 |
| hgdp | rs33978901 |
| ensembl | rs33978901 |
| geneview | rs33978901 |
| scholar | rs33978901 |
| rs33978901 | |
| pharmgkb | rs33978901 |
| gwascentral | rs33978901 |
| openSNP | rs33978901 |
| 23andMe | rs33978901 |
| SNPshot | rs33978901 |
| SNPdbe | rs33978901 |
| MSV3d | rs33978901 |
| GWAS Ctlg | rs33978901 |
| Max Magnitude | 3 |
rs33978901, also known as c.2771G>A, p.Arg924Gln and R924Q, is a SNP in the VWF gene on chromosome 12.
The rarer rs33978901(T) allele (in dbSNP and SNPedia orientation) leads to reductions in VWF and FVIII levels particularly in combination with blood group O. Its inheritance alone may be insufficient for the diagnosis of Von Willebrand disease, but it does appear to be associated with a further VWF level reduction in individuals with a second VWF mutation and it also contributes to population variance in VWF and FVIII levels according to a 2010 publication.[PMID 20492463
]
This SNP is referred to as i5049145 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs33978901(T;T) |
| Alt | Rs33978901(T;T) |
| Reference | Rs33978901(C;C) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | VWF |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.6140659C>T |
| CLNSRC | |
| CLNACC | RCV000086632.1, |
