AMPD2, adenosine monophosphate deaminase 2, 271

N. diseases: 60; N. variants: 10
Disease: Glycogen Storage Disease Type V ×
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: rs567798234
rs567798234 		0.851 0.120 1 109625326 missense variant C/T snv 4.1E-06 7.0E-06
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008