present in Gene: VWF
present in Chromosome: 12
Position on Chromosome: 5994484
Alleles of this Variant: G/A;T
rs61750615 in
VWF gene and
von Willebrand Disease, Type 3
PMID 8088787 1994 Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin.
PMID 7989040 1994 Genetic heterogeneity of severe von Willebrand disease type III in the German population.
PMID 10887119 2000 A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.