GBA, glucosylceramidase beta, 2629

N. diseases: 220; N. variants: 79
Disease: Thrombocytopenia ×
Source: INFERRED ×
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