VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease, Type 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750595
rs61750595
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264041
Disease:
von Willebrand Disease, Type 3 		0.720 GeneticVariation BEFREE This study indicates that mainly two mutations (c.2435delC and p.R1659X) cause the majority of type 3 VWD in Finland. 23834637 2013
dbSNP: rs61750595
rs61750595
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264041
Disease:
von Willebrand Disease, Type 3 		0.720 GeneticVariation BEFREE The patient with VWD was found positive for homozygous truncating mutation R1659X in VWF gene, and all offspring were heterozygous carriers of null allele. 20147343 2010
dbSNP: rs61750595
rs61750595
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264041
Disease:
von Willebrand Disease, Type 3 		A 0.720 CausalMutation CLINVAR