rs61749397, VWF

N. diseases: 9
Disease: Qualitative platelet deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Qualitative platelet deficiency
CUI: C0235604
Disease: Qualitative platelet deficiency
0.020 GeneticVariation BEFREE Clinical history, hemostasis results, and gene analysis revealed von Willebrand disease (VWD) type 2B with the mutation (c.3946G>A; p.V1316M), which combines a von Willebrand factor defect with severe thrombocytopenia, as well as a thrombocytopathy. 27885890 2017
Qualitative platelet deficiency
CUI: C0235604
Disease: Qualitative platelet deficiency
0.020 GeneticVariation BEFREE These data indicate that the vWD-type 2B mutation p.V1316M is associated with severe thrombocytopathy, which likely contributes to the bleeding tendency in vWD-type 2B. 24270421 2013