Disease: Glycogen Storage 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: rs12118058
rs12118058 		1.000 0.080 1 99916709 stop gained C/G;T snv 3.6E-05 1.0E-04
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1997 2016