VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand Disease, Type 3 ×
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: rs61750630
rs61750630 		0.925 0.080 12 5981988 missense variant C/A snv
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 3 1994 2000
dbSNP: rs61750595
rs61750595 		0.882 0.080 12 6018443 stop gained G/A;T snv 5.6E-05
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.720 1.000 2 2010 2013
dbSNP: rs61751305
rs61751305 		1.000 0.080 12 5949823 missense variant C/T snv 8.0E-06
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 4 1994 2004
dbSNP: rs61750615
rs61750615 		1.000 0.080 12 5994484 missense variant G/A;T snv 1.3E-02
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 1994 2000
dbSNP: rs61751298
rs61751298 		1.000 0.080 12 5969304 missense variant T/A snv 4.0E-06 7.0E-06
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 1994 2000
dbSNP: rs61753997
rs61753997 		0.882 0.080 12 6075392 missense variant G/A snv 2.8E-05; 8.0E-06 4.2E-05
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 1994 2000
dbSNP: rs61750612
rs61750612 		0.882 0.080 12 6013544 stop gained G/A;T snv 1.6E-05
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61751296
rs61751296 		0.925 0.080 12 5969337 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs62643626
rs62643626 		1.000 0.080 12 6071322 missense variant C/A snv
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs62643632
rs62643632 		0.925 0.080 12 6044298 frameshift variant G/-;GG delins 6.3E-05
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs61748497
rs61748497 		0.851 0.080 12 6025624 missense variant A/G snv
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs61750086
rs61750086 		1.000 0.080 12 6019050 stop gained G/C;T snv
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		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: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1996 1996
dbSNP: rs61751306
rs61751306 		1.000 0.080 12 5949195 missense variant A/C snv
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs61753998
rs61753998 		1.000 0.080 12 6075386 missense variant A/G;T snv
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs958629333
rs958629333 		1.000 0.080 12 6121245 missense variant A/G snv
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1996 1996