SCARB2, scavenger receptor class B member 2, 950

N. diseases: 103; N. variants: 28
Disease: Gaucher Disease ×
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: rs755903502
rs755903502 		0.882 0.120 4 76161738 stop gained T/A;C snv 4.0E-05; 4.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011