VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease, Type 2N ×
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: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.730 1.000 3 2006 2018
dbSNP: rs121964894
rs121964894 		0.925 0.080 12 6036488 missense variant G/A snv 6.4E-05 4.2E-05
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61748477
rs61748477 		0.925 0.080 12 6044361 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61748478
rs61748478 		1.000 0.080 12 6044349 missense variant T/C snv
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61748497
rs61748497 		0.851 0.080 12 6025624 missense variant A/G snv
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61754002
rs61754002 		1.000 0.080 12 6072369 stop gained G/T snv
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs62643630
rs62643630 		1.000 0.080 12 6044322 missense variant C/A snv
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61748469
rs61748469 		1.000 0.080 12 6044446 missense variant T/C snv
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006