rs61749387, VWF

N. diseases: 3
Disease: von Willebrand Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
0.710 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
0.710 GeneticVariation BEFREE By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. 8865541 1996