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: rs1012488531
rs1012488531 		1.000 0.080 12 6121263 missense variant T/C;G snv 4.0E-06
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.030 1.000 3 2003 2007
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 0.500 2 2003 2005
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C2825856
Disease: Factor VII measurement
Factor VII measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
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: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2000 2000
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
dbSNP: rs1063857
rs1063857 		12 6044348 synonymous variant A/G snv 0.31 0.40
CUI: C2825856
Disease: Factor VII measurement
Factor VII measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1063857
rs1063857 		12 6044348 synonymous variant A/G snv 0.31 0.40
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2010 2010
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: rs121964894
rs121964894 		0.925 0.080 12 6036488 missense variant G/A snv 6.4E-05 4.2E-05
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: rs121964894
rs121964894 		0.925 0.080 12 6036488 missense variant G/A snv 6.4E-05 4.2E-05
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121964895
rs121964895 		0.851 0.080 12 6021960 missense variant C/A;T snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.750 1.000 6 2006 2019