SERPINF1, serpin family F member 1, 5176

N. diseases: 294; 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: rs1136287
rs1136287 		0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69
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 0.020 1.000 2 2009 2011