VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease, Type 2 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs41276738
rs41276738 		0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 1 2004 2004