|| common on affy axiom data
|?|| (C;C) (C;T) (T;T) ||28|
| Disease Association
|| Defects in VWF are associated with various forms of von Willebrand disease (VWD) (MIM:193400, 277480). VWD is characterized by frequent bleeding (gingival, minor skin quantitative lacerations, menorrhagia, etc.). Type I VWD is associated with a deficiency of VWF; type II by normal to decreased plasma level of VWF; type III by a virtual absence of VWF. There are subtypes (A to H) of type II VWD; for example: type IIA is characterized by the absence of VWF high molecular weight multimers in plasma.
[PMID 18598365] Analytical approaches to detect maternal/fetal genotype incompatibilities that increase risk of pre-eclampsia.
[PMID 22568520] von Willebrand factor plasma levels, genetic variations and coronary heart disease in an older population.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 25779970] Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans