FBP1, fructose-bisphosphatase 1, 2203

N. diseases: 125; N. variants: 18
Disease: Fructose-1,6-Diphosphatase Deficiency ×
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: rs121918190
rs121918190 		1.000 0.080 9 94639223 stop gained C/A;T snv
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0