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: rs61750070
rs61750070
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease
C 0.710 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs61750070
rs61750070
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease
0.710 GeneticVariation BEFREE A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis. 18064311 2007
dbSNP: rs61750070
rs61750070
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0042974
Disease:
von Willebrand Disease
C 0.710 CausalMutation CLINVAR