Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750584
rs61750584
VWF
G 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs61750584
rs61750584
VWF
G 0.700 CausalMutation CLINVAR Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease. 24712919

2014
dbSNP: rs61750584
rs61750584
VWF
G 0.700 CausalMutation CLINVAR Structural basis of type 2A von Willebrand disease investigated by molecular dynamics simulations and experiments. 23110044

2012
dbSNP: rs61750584
rs61750584
VWF
G 0.700 CausalMutation CLINVAR Diagnosis and management of von Willebrand disease in a single institution of Argentina. 22102201

2011
dbSNP: rs61750584
rs61750584
VWF
G 0.700 CausalMutation CLINVAR Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations. 17681836

2007
dbSNP: rs61750584
rs61750584
VWF
G 0.700 CausalMutation CLINVAR ADAMTS13 substrate recognition of von Willebrand factor A2 domain. 16221672

2006
dbSNP: rs61750584
rs61750584
VWF
G 0.700 CausalMutation CLINVAR We used recombinant human ADAMTS13 (rhuADAMTS13) to digest recombinant full-length VWF and a VWF fragment spanning the VWF A1 through A3 domains, harboring 13 different VWD type 2A mutations (C1272S, G1505E, G1505R, S1506L, M1528V, R1569del, R1597W, V1607D, G1609R, I1628T, G1629E, G1631D, and E1638K). 16322474

2006
dbSNP: rs61750584
rs61750584
VWF
G 0.700 CausalMutation CLINVAR Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). 1673047

1991