VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
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: rs267607364
rs267607364 		1.000 0.080 12 5969275 frameshift variant -/CT ins
CUI: C1848525
Disease: von Willebrand Disease, Recessive Form
von Willebrand Disease, Recessive Form 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs61750101
rs61750101 		0.925 0.080 12 6018877 missense variant A/C snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750070
rs61750070 		0.882 0.080 12 6019303 missense variant A/C snv 3.2E-05 3.5E-05
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 2 2007 2019
dbSNP: rs267607333
rs267607333 		1.000 0.080 12 6021901 missense variant A/C snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs267607334
rs267607334 		1.000 0.080 12 6019555 missense variant A/C snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs61749369
rs61749369 		1.000 0.080 12 6019716 missense variant A/C snv
CUI: C1282968
Disease: von Willebrand Disease, Type 2A
von Willebrand Disease, Type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs61750070
rs61750070 		0.882 0.080 12 6019303 missense variant A/C snv 3.2E-05 3.5E-05
CUI: C1868263
Disease: Platelet Aggregation, Spontaneous
Platelet Aggregation, Spontaneous 		Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
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: 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: rs267607353
rs267607353 		1.000 0.080 12 6016197 missense variant A/C snv 1.4E-04
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61750101
rs61750101 		0.925 0.080 12 6018877 missense variant A/C snv
CUI: C1282968
Disease: von Willebrand Disease, Type 2A
von Willebrand Disease, Type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61749372
rs61749372 		0.925 0.080 12 6019604 missense variant A/C;G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61749372
rs61749372 		0.925 0.080 12 6019604 missense variant A/C;G snv
CUI: C1282968
Disease: von Willebrand Disease, Type 2A
von Willebrand Disease, Type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61750097
rs61750097 		0.925 0.080 12 6018910 missense variant A/C;G;T snv
CUI: C1282968
Disease: von Willebrand Disease, Type 2A
von Willebrand Disease, Type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs61750097
rs61750097 		0.925 0.080 12 6018910 missense variant A/C;G;T snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs267607342
rs267607342 		1.000 0.080 12 6018799 missense variant A/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61748497
rs61748497 		0.851 0.080 12 6025624 missense variant A/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750581
rs61750581 		0.925 0.080 12 6018581 missense variant A/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750584
rs61750584 		0.882 0.080 12 6018535 missense variant A/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61751310
rs61751310 		0.882 0.080 12 5949140 missense variant A/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750584
rs61750584 		0.882 0.080 12 6018535 missense variant A/G snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1991 2019
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: rs61748511
rs61748511 		0.925 0.080 12 6022833 missense variant A/G snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 2009 2017
dbSNP: rs1063857
rs1063857 		12 6044348 synonymous variant A/G snv 0.31 0.40
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1063857
rs1063857 		12 6044348 synonymous variant A/G snv 0.31 0.40
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		0.700 1.000 1 2013 2013