VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease, Type 2B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750070
rs61750070
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1282971
Disease:
von Willebrand Disease, Type 2B 		0.010 GeneticVariation BEFREE The new I1372S VWF mutation, characterized by SPA and hyper-responsiveness to ristocetin thus has some of the features of type 2B VWD, but not the lack of large VWF multimers, so we defined this variant as type 2B-like VWD. 18064311 2007