SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Glycogen storage disease type II ×
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: rs551975446
rs551975446 		0.925 0.120 3 165043125 missense variant G/C snv 4.8E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1994 1994