SOD2, superoxide dismutase 2, 6648

N. diseases: 668; N. variants: 32
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: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
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 < 0.001 1 2009 2009