VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand disease type 2M ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749380
rs61749380
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1282974
Disease:
von Willebrand disease type 2M 		0.710 GeneticVariation BEFREE Thus, the new S1285F mutation within the A1 loop was responsible for the type 2M VWD observed in these patients, and was involved in the binding of VWF to botrocetin and to platelet glycoprotein Ib (GPIb). 12588351 2003
dbSNP: rs61749380
rs61749380
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1282974
Disease:
von Willebrand disease type 2M 		A 0.710 CausalMutation CLINVAR