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: rs121918189
rs121918189
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918191
rs121918191
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121918192
rs121918192
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		C 0.800 CausalMutation CLINVAR
dbSNP: rs766005419
rs766005419
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		0.800 GeneticVariation UNIPROT
dbSNP: rs766005419
rs766005419
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		A 0.800 CausalMutation CLINVAR
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: 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: rs121918188
rs121918188
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		0.800 GeneticVariation UNIPROT Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095 1997
dbSNP: rs121918188
rs121918188
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		T 0.800 CausalMutation CLINVAR Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095 1997
dbSNP: rs121918189
rs121918189
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		0.800 GeneticVariation UNIPROT Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095 1997
dbSNP: rs121918191
rs121918191
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		0.800 GeneticVariation UNIPROT Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095 1997
dbSNP: rs121918192
rs121918192
Entrez Id: 2203;101928099
Gene Symbol: FBP1;PCAT7
FBP1;PCAT7
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		0.800 GeneticVariation UNIPROT Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095 1997
dbSNP: rs121918188
rs121918188
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		0.800 GeneticVariation UNIPROT Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. 12126934 2002
dbSNP: rs121918189
rs121918189
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
CUI: C0016756
Disease:
Fructose-1,6-Diphosphatase Deficiency 		0.800 GeneticVariation UNIPROT Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. 12126934 2002