Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772203447
rs772203447
VWF
T 0.700 GeneticVariation CLINVAR A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture. 26986123

2016
dbSNP: rs772203447
rs772203447
VWF
T 0.700 GeneticVariation CLINVAR Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients. 24675615

2014
dbSNP: rs772203447
rs772203447
VWF
T 0.700 GeneticVariation CLINVAR Mutations in the A3 domain of von Willebrand factor inducing combined qualitative and quantitative defects in the protein. 23335371

2013
dbSNP: rs772203447
rs772203447
VWF
T 0.700 GeneticVariation CLINVAR Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations. 18449422

2008