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: rs61750117
rs61750117
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease 		A 0.720 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs61750117
rs61750117
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease 		0.720 GeneticVariation BEFREE Compared with wild-type VWF A2-domain, calcium-binding mutants including the common von Willebrand disease (VWD) type 2A R1597W mutant were expressed in an open conformation in ECs and were highly susceptible to intracellular proteolysis. 29296853 2017
dbSNP: rs61750117
rs61750117
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease 		0.720 GeneticVariation BEFREE By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. 8865541 1996