Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555198839
rs1555198839
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Current controversies in the diagnosis and management of von Willebrand disease. 26288715

2015
dbSNP: rs1555198839
rs1555198839
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy. 24319188

2013
dbSNP: rs1555198839
rs1555198839
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population. 22197721

2012
dbSNP: rs1555198839
rs1555198839
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. 19372260

2009
dbSNP: rs1555198839
rs1555198839
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). 16985174

2007
dbSNP: rs1555198839
rs1555198839
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. 17190853

2007
dbSNP: rs1555198839
rs1555198839
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. 16889557

2006
dbSNP: rs1555198839
rs1555198839
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Genetic testing for von Willebrand disease: the Canadian experience. 16862529

2006
dbSNP: rs1555198839
rs1555198839
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). 16634745

2006
dbSNP: rs1555198839
rs1555198839
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Congenital von Willebrand disease type I: definition, phenotypes, clinical and laboratory assessment. 11686102

2001
dbSNP: rs1555198839
rs1555198839
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Diagnosis and management of von Willebrand disease. 23401897

1999
dbSNP: rs1555198839
rs1555198839
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Birth of the D-E-A-D box. 2563148

1989
dbSNP: rs1555198839
rs1555198839
VWF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR The effect of ABO blood group on the diagnosis of von Willebrand disease. 3495304

1987