GP9, glycoprotein IX platelet, 2815

N. diseases: 46; N. variants: 9
Disease: Thrombocytopenia ×
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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1297235855
rs1297235855 		3 129062206 missense variant C/T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012