Variant: rs61751305 

    present in Gene: ANO2;VWF
    present in Chromosome: 12
    Position on Chromosome: 5949823
    Alleles of this Variant: C/T

rs61751305 in ANO2;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 10887119 2000 A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion.

PMID 7989040 1994 Genetic heterogeneity of severe von Willebrand disease type III in the German population.