GP9, glycoprotein IX platelet, 2815

N. diseases: 46; N. variants: 9
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: rs28933378
rs28933378 		0.925 0.080 3 129061809 missense variant T/C snv 7.8E-05 7.0E-06
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 7 1993 2002