VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease, Type 2B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749370
rs61749370
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1282971
Disease:
von Willebrand Disease, Type 2B 		0.720 GeneticVariation BEFREE Patients with p.P1266L and p.R1304V were characterized as atypical VWD2B. 27978591 2017
dbSNP: rs61749370
rs61749370
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1282971
Disease:
von Willebrand Disease, Type 2B 		0.720 GeneticVariation BEFREE Sequencing of the VWF gene in the propositus revealed a heterozygous p.Pro1266Leu mutation previously found in type 2B VWD Malmö/New York. 27683759 2016
dbSNP: rs61749370
rs61749370
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1282971
Disease:
von Willebrand Disease, Type 2B 		A 0.720 CausalMutation CLINVAR