VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: Bernard-Soulier Syndrome ×
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: rs1305880207
rs1305880207 		1.000 0.080 12 6110550 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1999 1999