VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: von Willebrand disease type 2M ×
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: rs61749380
rs61749380 		1.000 0.080 12 6019564 missense variant G/A;C snv 4.0E-06
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 1 2003 2003
dbSNP: rs61749398
rs61749398 		0.925 0.080 12 6019448 missense variant C/T snv 8.0E-06
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 < 0.001 1 2006 2006
dbSNP: rs121964895
rs121964895 		0.851 0.080 12 6021960 missense variant C/A;T snv
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 2000 2006
dbSNP: rs2228317
rs2228317 		0.925 0.080 12 6046784 missense variant C/T snv 1.4E-02 5.6E-02
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs61749399
rs61749399 		1.000 0.080 12 6019447 missense variant C/G snv
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002