GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
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: rs878853314
rs878853314 		0.882 0.240 1 155239655 missense variant C/G snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs878853315
rs878853315 		0.925 0.160 1 155236292 missense variant G/C snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1289324472
rs1289324472 		0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs76763715
rs76763715 		0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008