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: rs5030764
rs5030764 		0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.870 1.000 11 1993 2019
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
dbSNP: rs121918037
rs121918037 		0.882 0.080 3 129061951 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 0.730 1.000 9 1993 2017
dbSNP: rs121918038
rs121918038 		0.925 0.080 3 129061759 missense variant T/C snv
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 7 1993 2002
dbSNP: rs121918036
rs121918036 		0.925 0.080 3 129061849 missense variant A/G snv
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 7 1993 2002
dbSNP: rs28933377
rs28933377 		0.925 0.080 3 129061906 missense variant T/C snv 6.9E-05 8.4E-05
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 7 1993 2002