GP9, glycoprotein IX platelet, 2815

N. diseases: 46; N. variants: 9
Disease: Macrothrombocytopenia ×
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: rs121918037
rs121918037 		0.882 0.080 3 129061951 missense variant T/C;G snv 4.0E-06
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs5030764
rs5030764 		0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1297298519
rs1297298519 		1.000 0.040 3 129062076 frameshift variant T/- del 1.4E-05
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.700 0