VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease, Type 2B ×
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: rs61749397
rs61749397 		0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.770 0.857 7 2001 2019
dbSNP: rs61749370
rs61749370 		0.882 0.080 12 6019621 missense variant G/A;T snv 8.0E-04; 2.8E-04
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.720 1.000 2 2016 2017
dbSNP: rs61749384
rs61749384 		0.882 0.080 12 6019502 missense variant G/A snv
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.720 1.000 2 2003 2010
dbSNP: rs61749387
rs61749387 		0.882 0.080 12 6019496 missense variant G/A snv
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61749392
rs61749392 		0.925 0.080 12 6019479 missense variant C/G snv
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61749393
rs61749393 		0.925 0.080 12 6019478 missense variant C/A;G snv
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61749403
rs61749403 		0.882 0.080 12 6019396 missense variant C/A;G;T snv 4.0E-06
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs41276738
rs41276738 		0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs61749385
rs61749385 		0.925 0.080 12 6019501 missense variant C/A;T snv
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs61749400
rs61749400 		1.000 0.080 12 6019408 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs61750070
rs61750070 		0.882 0.080 12 6019303 missense variant A/C snv 3.2E-05 3.5E-05
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs61750598
rs61750598 		0.925 0.080 12 6018404 missense variant C/T snv 4.1E-04 1.7E-04
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1996 1996