VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750074
rs61750074
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease 		0.710 GeneticVariation BEFREE We characterized five patients affected with von Willebrand disease (VWD) carrying the p.Arg1379Cys mutation. 27785872 2016
dbSNP: rs61750074
rs61750074
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease 		A 0.710 CausalMutation CLINVAR Higher and lower active circulating VWF levels: different facets of von Willebrand disease. 26456374 2015
dbSNP: rs61750074
rs61750074
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease 		A 0.710 CausalMutation CLINVAR Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease. 21534937 2011
dbSNP: rs61750074
rs61750074
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease 		A 0.710 CausalMutation CLINVAR Reduced survival of type 2B von Willebrand factor, irrespective of large multimer representation or thrombocytopenia. 20305138 2010
dbSNP: rs61750074
rs61750074
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease 		A 0.710 CausalMutation CLINVAR Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). 16985174 2007
dbSNP: rs61750074
rs61750074
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease 		A 0.710 CausalMutation CLINVAR The amino acid change C1227R, predicted by the mutation 4135C-->T, was identified as a compound heterozygote in a patient with moderately severe type 1 vWD. 11325649 2001