VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease, Type 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750630
rs61750630
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264041
Disease:
von Willebrand Disease, Type 3 		0.800 GeneticVariation UNIPROT A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion. 10887119 2000
dbSNP: rs61750630
rs61750630
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264041
Disease:
von Willebrand Disease, Type 3 		0.800 GeneticVariation UNIPROT Genetic heterogeneity of severe von Willebrand disease type III in the German population. 7989040 1994
dbSNP: rs61750630
rs61750630
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264041
Disease:
von Willebrand Disease, Type 3 		0.800 GeneticVariation UNIPROT Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin. 8088787 1994
dbSNP: rs61750630
rs61750630
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264041
Disease:
von Willebrand Disease, Type 3 		A 0.800 CausalMutation CLINVAR