Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918188
rs121918188
FBP1
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
FBP1
T 0.800 CausalMutation CLINVAR Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 25601412

2015
dbSNP: rs121918188
rs121918188
FBP1
0.800 GeneticVariation UNIPROT Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 25601412

2015
dbSNP: rs121918189
rs121918189
FBP1
0.800 GeneticVariation UNIPROT Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 25601412

2015
dbSNP: rs121918191
rs121918191
FBP1
0.800 GeneticVariation UNIPROT Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 25601412

2015
dbSNP: rs121918192
rs121918192
FBP1 ; PCAT7
0.800 GeneticVariation UNIPROT Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. 25601412

2015
dbSNP: rs121918188
rs121918188
FBP1
T 0.800 CausalMutation CLINVAR Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis. 20096900

2011
dbSNP: rs121918188
rs121918188
FBP1
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
FBP1
0.800 GeneticVariation UNIPROT Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. 12126934

2002
dbSNP: rs121918191
rs121918191
FBP1
0.800 GeneticVariation UNIPROT Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. 12126934

2002
dbSNP: rs121918192
rs121918192
FBP1 ; PCAT7
0.800 GeneticVariation UNIPROT Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. 12126934

2002
dbSNP: rs121918188
rs121918188
FBP1
0.800 GeneticVariation UNIPROT Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095

1997
dbSNP: rs121918188
rs121918188
FBP1
T 0.800 CausalMutation CLINVAR Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095

1997
dbSNP: rs121918189
rs121918189
FBP1
0.800 GeneticVariation UNIPROT Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095

1997
dbSNP: rs121918191
rs121918191
FBP1
0.800 GeneticVariation UNIPROT Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095

1997
dbSNP: rs121918192
rs121918192
FBP1 ; PCAT7
0.800 GeneticVariation UNIPROT Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. 9382095

1997
dbSNP: rs121918189
rs121918189
FBP1
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918191
rs121918191
FBP1
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918192
rs121918192
FBP1 ; PCAT7
C 0.800 CausalMutation CLINVAR

dbSNP: rs766005419
rs766005419
FBP1
0.800 GeneticVariation UNIPROT

dbSNP: rs766005419
rs766005419
FBP1
A 0.800 CausalMutation CLINVAR

dbSNP: rs566453434
rs566453434
FBP1 ; PCAT7
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
FBP1 ; PCAT7
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
FBP1 ; PCAT7
T 0.710 CausalMutation CLINVAR Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families. 29016355

2017
dbSNP: rs566453434
rs566453434
FBP1 ; PCAT7
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