rs61749397, VWF

N. diseases: 9
Disease: Blood Coagulation Disorders ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
0.020 GeneticVariation BEFREE We recently demonstrated that a marked defect in agonist-induced activation of the small GTPase, Rap1, and integrin αIIbβ3 in VWD (p.V1316M) type 2B platelets also contributes to the bleeding tendency. 29925524 2018
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
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