FBP1, fructose-bisphosphatase 1, 2203

N. diseases: 125; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918188
rs121918188
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0020615
Disease:
Hypoglycemia 		0.010 GeneticVariation BEFREE Gene tracking within the family revealed that his elder sister had a heterozygous G164S mutation without symptoms of hypoglycemia. 20096900 2011
dbSNP: rs1563991556
rs1563991556
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		C 0.700 CausalMutation CLINVAR A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis. 27101822 2016
dbSNP: rs1060499726
rs1060499726
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs111437558
rs111437558
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918190
rs121918190
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1563983184
rs1563983184
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1563983269
rs1563983269
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1563984164
rs1563984164
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs757653154
rs757653154
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs758609113
rs758609113
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs761470205
rs761470205
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		C 0.700 CausalMutation CLINVAR
dbSNP: rs761470205
rs761470205
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs774362519
rs774362519
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs780803192
rs780803192
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs566453434
rs566453434
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.710 CausalMutation CLINVAR Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K). 29774539 2018
dbSNP: rs566453434
rs566453434
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		0.710 GeneticVariation BEFREE Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K). 29774539 2018
dbSNP: rs566453434
rs566453434
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.710 CausalMutation CLINVAR Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families. 29016355 2017
dbSNP: rs566453434
rs566453434
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.710 CausalMutation CLINVAR A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis. 27101822 2016
dbSNP: rs566453434
rs566453434
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.710 CausalMutation CLINVAR Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency. 23881342 2013
dbSNP: rs566453434
rs566453434
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		A 0.710 CausalMutation CLINVAR
dbSNP: rs121918188
rs121918188
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.800 CausalMutation CLINVAR A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis. 27101822 2016
dbSNP: rs121918188
rs121918188
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.800 CausalMutation CLINVAR Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 25601412 2015
dbSNP: rs121918188
rs121918188
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		0.800 GeneticVariation UNIPROT Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 25601412 2015
dbSNP: rs121918189
rs121918189
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		0.800 GeneticVariation UNIPROT Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 25601412 2015
dbSNP: rs121918191
rs121918191
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		0.800 GeneticVariation UNIPROT Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 25601412 2015