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: rs267607369
rs267607369 		1.000 0.080 12 5949055 missense variant G/A;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 2006 2006
dbSNP: rs61751311
rs61751311 		1.000 0.080 12 5949139 missense variant C/G 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 2012 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: rs61751310
rs61751310 		0.882 0.080 12 5949140 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 0.010 1.000 1 2001 2001
dbSNP: rs61751310
rs61751310 		0.882 0.080 12 5949140 missense variant A/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: 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: 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: rs149834874
rs149834874 		12 5952518 missense variant C/A;G;T snv 4.0E-06; 1.5E-03; 2.4E-05
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.700 1.000 1 2019 2019
dbSNP: rs765299984
rs765299984 		1.000 0.080 12 5953560 missense variant C/T snv 8.0E-06 7.0E-06
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 2013 2013
dbSNP: rs57040304
rs57040304 		12 5953728 non coding transcript exon variant A/G snv 9.7E-02
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2019 2019
dbSNP: rs12423482
rs12423482 		12 5961679 intron variant A/G snv 4.4E-02
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2019 2019
dbSNP: rs73049469
rs73049469 		1.000 0.080 12 5965306 intron variant C/A snv 0.14
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12829220
rs12829220 		1.000 0.040 12 5965484 intron variant C/T snv 1.5E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs4764478
rs4764478 		12 5968959 intron variant T/A snv 0.22
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
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: 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: rs61751296
rs61751296 		0.925 0.080 12 5969337 stop gained G/A snv 1.6E-05 1.4E-05
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 2017 2017
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: 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
dbSNP: rs917859
rs917859 		1.000 0.080 12 5972947 intron variant A/G snv 0.67
CUI: C0276226
Disease: Herpes encephalitis
Herpes encephalitis 		Infections; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs61751288
rs61751288 		1.000 0.080 12 5976140 stop gained G/A snv 1.2E-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 2002 2019
dbSNP: rs61751286
rs61751286 		1.000 0.080 12 5976158 missense variant G/A snv 8.0E-05 1.3E-04
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 2007 2009
dbSNP: rs61750630
rs61750630 		0.925 0.080 12 5981988 missense variant C/A snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.060 1.000 6 2000 2015
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: rs746482504
rs746482504 		0.925 0.080 12 5983175 synonymous variant G/A snv 8.0E-06
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 2007 2016