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: 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: C4023022
Disease: Reduced quantity of Von Willebrand factor
Reduced quantity of Von Willebrand factor 		0.700 0
dbSNP: rs121964895
rs121964895 		0.851 0.080 12 6021960 missense variant C/A;T snv
CUI: C4017650
Disease: VON WILLEBRAND FACTOR VICENZA PHENOTYPE
VON WILLEBRAND FACTOR VICENZA PHENOTYPE 		0.700 0
dbSNP: rs121964895
rs121964895 		0.851 0.080 12 6021960 missense variant C/A;T snv
CUI: C4024701
Disease: Reduced von Willebrand factor activity
Reduced von Willebrand factor activity 		0.700 0
dbSNP: rs1800386
rs1800386 		0.851 0.120 12 6018667 missense variant T/C snv 2.7E-03 2.3E-03
CUI: C4017296
Disease: VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO
VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs267607326
rs267607326 		0.925 0.080 12 6022841 missense variant T/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 0
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: rs41276738
rs41276738 		0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03
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 0
dbSNP: rs61748467
rs61748467 		1.000 0.080 12 6046725 missense variant C/T snv 1.6E-05 2.8E-05
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61748477
rs61748477 		0.925 0.080 12 6044361 missense variant G/A snv 8.0E-06 1.4E-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: rs61748478
rs61748478 		1.000 0.080 12 6044349 missense variant T/C snv
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: rs61748497
rs61748497 		0.851 0.080 12 6025624 missense variant A/G snv
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: 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: rs61749387
rs61749387 		0.882 0.080 12 6019496 missense variant G/A snv
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61749389
rs61749389 		1.000 0.080 12 6019493 missense variant T/C snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61749392
rs61749392 		0.925 0.080 12 6019479 missense variant C/G snv
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61749393
rs61749393 		0.925 0.080 12 6019478 missense variant C/A;G snv
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61749403
rs61749403 		0.882 0.080 12 6019396 missense variant C/A;G;T snv 4.0E-06
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61750072
rs61750072 		0.925 0.080 12 6019297 missense variant C/A;T snv
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		0.700 0
dbSNP: rs61750072
rs61750072 		0.925 0.080 12 6019297 missense variant C/A;T snv
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		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: rs61750117
rs61750117 		0.882 0.080 12 6018629 missense variant G/A;C;T snv 4.0E-06
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: rs61750579
rs61750579 		0.925 0.080 12 6018598 missense variant A/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 0.700 0
dbSNP: rs61750581
rs61750581 		0.925 0.080 12 6018581 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: rs61750584
rs61750584 		0.882 0.080 12 6018535 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