VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61748511
rs61748511
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264039
Disease:
von Willebrand Disease, Type 1 		0.830 GeneticVariation BEFREE Mutation C1149R in the von Willebrand factor (VWF) gene has been thought to cause autosomal dominant severe type 1 von Willebrand disease (VWD). 19286880 2009
dbSNP: rs61748511
rs61748511
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264039
Disease:
von Willebrand Disease, Type 1 		0.830 GeneticVariation UNIPROT Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins. 11698279 2001
dbSNP: rs61748511
rs61748511
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264039
Disease:
von Willebrand Disease, Type 1 		0.830 GeneticVariation BEFREE Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins. 11698279 2001
dbSNP: rs61748511
rs61748511
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264039
Disease:
von Willebrand Disease, Type 1 		0.830 GeneticVariation UNIPROT A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion. 10887119 2000
dbSNP: rs61748511
rs61748511
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264039
Disease:
von Willebrand Disease, Type 1 		0.830 GeneticVariation BEFREE Twenty-four apparently unrelated Italian patients with autosomal dominant type 1 von Willebrand disease (VWD) and a clear autosomal pattern of inheritance of bleeding symptoms were screened for the C1149R and C1130F mutations. 10792299 2000
dbSNP: rs61748511
rs61748511
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264039
Disease:
von Willebrand Disease, Type 1 		G 0.830 CausalMutation CLINVAR
dbSNP: rs41276738
rs41276738
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.810 GeneticVariation BEFREE The cause of this was subsequently shown to be the Normandy variant of type-2 von Willebrand's disease due to a homozygous Arg854Gln mutation in the von Willebrand factor gene. 15113383 2004
dbSNP: rs41276738
rs41276738
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		T 0.810 CausalMutation CLINVAR
dbSNP: rs41276738
rs41276738
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.810 GeneticVariation UNIPROT
dbSNP: rs61749384
rs61749384
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		A 0.800 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs61749397
rs61749397
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		T 0.800 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs61750072
rs61750072
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		T 0.800 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs61749370
rs61749370
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.800 GeneticVariation UNIPROT C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance. 21592258 2012
dbSNP: rs61749384
rs61749384
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.800 GeneticVariation UNIPROT C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance. 21592258 2012
dbSNP: rs61749397
rs61749397
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.800 GeneticVariation UNIPROT C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance. 21592258 2012
dbSNP: rs61750072
rs61750072
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.800 GeneticVariation UNIPROT C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance. 21592258 2012
dbSNP: rs61750630
rs61750630
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264041
Disease:
von Willebrand Disease, Type 3 		0.800 GeneticVariation UNIPROT A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion. 10887119 2000
dbSNP: rs61749370
rs61749370
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.800 GeneticVariation UNIPROT Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease. 8622978 1996
dbSNP: rs61749384
rs61749384
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.800 GeneticVariation UNIPROT Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease. 8622978 1996
dbSNP: rs61749397
rs61749397
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.800 GeneticVariation UNIPROT Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease. 8622978 1996
dbSNP: rs61750072
rs61750072
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.800 GeneticVariation UNIPROT Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease. 8622978 1996
dbSNP: rs61749370
rs61749370
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.800 GeneticVariation UNIPROT Identification of a candidate missense mutation in a family with von Willebrand disease type IIC. 7789955 1995
dbSNP: rs61749370
rs61749370
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.800 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: rs61749370
rs61749370
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.800 GeneticVariation UNIPROT Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor. 8547152 1995
dbSNP: rs61749384
rs61749384
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease:
von Willebrand Disease, Type 2 		0.800 GeneticVariation UNIPROT Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor. 8547152 1995