Gene: VWF ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib. 1409710

1992
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease. 8622978

1996
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. 1672694

1991
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease. 8123843

1994
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor. 8348943

1993
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). 1673047

1991
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method. 8338947

1993
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT "Expression of von Willebrand factor ""Normandy"": an autosomal mutation that mimics hemophilia A." 1906179

1991
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor. 8547152

1995
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. 7620154

1995
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Investigation of type IIC von Willebrand disease. 8011991

1994
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences. 2010538

1991
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease. 1832934

1991
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Identification of a candidate missense mutation in a family with von Willebrand disease type IIC. 7789955

1995
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease. 8435341

1993
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance. 21592258

2012
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX. 1419804

1992
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. 8486782

1993
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden. 1419803

1992
dbSNP: rs121964894
rs121964894
VWF
0.700 GeneticVariation UNIPROT Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease. 1729889

1992
dbSNP: rs267607342
rs267607342
VWF
0.700 GeneticVariation UNIPROT Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease. 8435341

1993
dbSNP: rs267607342
rs267607342
VWF
0.700 GeneticVariation UNIPROT The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. 1672694

1991
dbSNP: rs267607342
rs267607342
VWF
0.700 GeneticVariation UNIPROT Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor. 8547152

1995
dbSNP: rs267607342
rs267607342
VWF
0.700 GeneticVariation UNIPROT "Expression of von Willebrand factor ""Normandy"": an autosomal mutation that mimics hemophilia A." 1906179

1991
dbSNP: rs267607342
rs267607342
VWF
0.700 GeneticVariation UNIPROT Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease. 8622978

1996