VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease, Type 1 ×
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: rs61748511
rs61748511 		0.925 0.080 12 6022833 missense variant A/G snv
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.830 1.000 4 2000 2009
dbSNP: rs121964895
rs121964895 		0.851 0.080 12 6021960 missense variant C/A;T snv
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.720 1.000 2 2009 2009
dbSNP: rs41276738
rs41276738 		0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 1 2013 2013
dbSNP: rs61753997
rs61753997 		0.882 0.080 12 6075392 missense variant G/A snv 2.8E-05; 8.0E-06 4.2E-05
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 2000 2001
dbSNP: rs61748467
rs61748467 		1.000 0.080 12 6046725 missense variant C/T snv 1.6E-05 2.8E-05
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61750595
rs61750595 		0.882 0.080 12 6018443 stop gained G/A;T snv 5.6E-05
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61750612
rs61750612 		0.882 0.080 12 6013544 stop gained G/A;T snv 1.6E-05
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1800383
rs1800383 		0.925 0.080 12 6019004 missense variant C/A;G;T snv 2.7E-04; 0.12; 4.0E-06
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 0.500 2 2013 2014
dbSNP: rs267607328
rs267607328 		0.925 0.080 12 6022811 missense variant G/A snv
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 2001 2002
dbSNP: rs33978901
rs33978901 		1.000 0.080 12 6031493 missense variant C/T snv 1.1E-02 1.2E-02
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 2009 2010
dbSNP: rs61750074
rs61750074 		0.925 0.080 12 6019283 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 2001 2016
dbSNP: rs1246069621
rs1246069621 		1.000 0.080 12 6064317 missense variant C/T snv 4.0E-06; 4.0E-06
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs141211612
rs141211612 		1.000 0.080 12 6019288 missense variant G/A snv 2.1E-04 6.1E-04
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1800386
rs1800386 		0.851 0.120 12 6018667 missense variant T/C snv 2.7E-03 2.3E-03
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs184227165
rs184227165 		0.925 0.080 12 6034799 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs267607324
rs267607324 		0.925 0.080 12 6022889 missense variant C/A snv
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs267607332
rs267607332 		0.882 0.080 12 6022740 missense variant C/T snv
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs61748470
rs61748470 		1.000 0.080 12 6044420 missense variant C/A snv
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs61750071
rs61750071 		0.882 0.080 12 6019298 missense variant G/A;T snv 4.0E-06
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs61750079
rs61750079 		1.000 0.080 12 6019180 missense variant G/A;T snv 8.0E-06
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs746482504
rs746482504 		0.925 0.080 12 5983175 synonymous variant G/A snv 8.0E-06
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs900907976
rs900907976 		1.000 0.080 12 5971683 synonymous variant G/A snv 4.0E-06
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016