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: rs11064010
rs11064010 		12 6050980 intron variant T/A;C snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs11064010
rs11064010 		12 6050980 intron variant T/A;C snv
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2019 2019
dbSNP: rs112814955
rs112814955 		12 6116765 intron variant G/A snv 5.5E-02
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		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: 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: rs1558519
rs1558519 		12 6044572 intron variant A/G snv 0.40
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs216293
rs216293 		12 6044493 intron variant G/C;T snv 2.7E-04; 0.59
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs216303
rs216303 		12 6049879 intron variant C/T snv 0.89
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs2238109
rs2238109 		12 6044801 intron variant T/A snv 0.40
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2238109
rs2238109 		12 6044801 intron variant T/A snv 0.40
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs2239144
rs2239144 		1.000 0.080 12 6087017 intron variant C/A;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2283335
rs2283335 		12 6048228 intron variant T/C snv 0.40
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
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: rs7135039
rs7135039 		12 6051448 intron variant C/T snv 0.40
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: rs7308002
rs7308002 		12 6043561 intron variant G/A snv 0.40
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: rs9634155
rs9634155 		12 6014611 intron variant T/C snv 6.0E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
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: 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: 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: rs61750595
rs61750595 		0.882 0.080 12 6018443 stop gained G/A;T snv 5.6E-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: rs61750612
rs61750612 		0.882 0.080 12 6013544 stop gained G/A;T snv 1.6E-05
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: 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: rs772534075
rs772534075 		1.000 0.080 12 6034819 stop gained G/A;C snv 4.0E-06; 3.2E-05
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 1993 1993