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: rs121918188
rs121918188 		0.925 0.080 9 94609998 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 5 1997 2016
dbSNP: rs121918189
rs121918189 		1.000 0.080 9 94609958 missense variant G/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 0.800 1.000 3 1997 2015
dbSNP: rs121918191
rs121918191 		1.000 0.080 9 94606939 missense variant A/G 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 0.800 1.000 3 1997 2015
dbSNP: rs121918192
rs121918192 		1.000 0.080 9 94603547 missense variant G/C 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 0.800 1.000 3 1997 2015
dbSNP: rs766005419
rs766005419 		1.000 0.080 9 94610016 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs566453434
rs566453434 		1.000 0.080 9 94603557 stop gained C/A;T snv 7.6E-05 7.0E-06
CUI: C0016756
Disease: Fructose-1,6-Diphosphatase Deficiency
Fructose-1,6-Diphosphatase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 4 2013 2018
dbSNP: rs1563991556
rs1563991556 		1.000 0.080 9 94639141 frameshift variant AGGTGCGCGATGCCCGCCTTGCGCACCGCCGAAGAGATGGCTTTGACTGCTGTGCAGAGCGAGTTGAGCAGCTGGGTCAACTCGCCCGTGCCGCGGGCCTTCCTGCCCTCCTCCATGACGAAGCGGGTCAGGGTGTTGACGTCCGTGTCGAAGGGCGCCTGGTCAGCCAT/- del
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 1.000 1 2016 2016
dbSNP: rs1060499726
rs1060499726 		1.000 0.080 9 94605553 frameshift variant CCCCATAAGG/- delins
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
dbSNP: rs111437558
rs111437558 		1.000 0.080 9 94605456 splice donor variant C/G;T snv 4.0E-06
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
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
dbSNP: rs1563983184
rs1563983184 		1.000 0.080 9 94617767 splice donor variant C/A 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
dbSNP: rs1563983269
rs1563983269 		1.000 0.080 9 94617845 missense variant A/G 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
dbSNP: rs1563984164
rs1563984164 		1.000 0.080 9 94620329 splice acceptor variant CTTTTCTCCGGTTCCACTATGATGGCGTGTTTATCTTCTTCTGACACGAGAACACACGTGGCAAAGGATGACTTTAACATGTTCATAACCAGGTCGTTGGAGAGGACGTCCAGCTTCTTAACTTGATCACCTGTCACGTTGGTAGAACCAGCAATGCCATAGC/- delins
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
dbSNP: rs757653154
rs757653154 		1.000 0.080 9 94603437 frameshift variant -/C ins 8.0E-05 2.2E-04
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
dbSNP: rs758609113
rs758609113 		1.000 0.080 9 94617839 missense variant C/T snv 2.0E-05
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
dbSNP: rs761470205
rs761470205 		1.000 0.080 9 94606906 frameshift variant TTTT/- delins 8.0E-06
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
dbSNP: rs774362519
rs774362519 		1.000 0.080 9 94606816 frameshift variant G/-;GG delins
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
dbSNP: rs780803192
rs780803192 		1.000 0.080 9 94605504 missense variant C/T snv 8.0E-06
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