FBP1 Chromosome 9
Fructose-bisphosphatase 1
Upload your DNA to see your personal genotypes for variants in FBP1.
What This Gene Does
Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Fructose-1,6-bisphosphatases
Locus Type
gene with protein product
Location
9q22.32
Ensembl
ENSG00000165140
Associated Conditions (3)
Fructose-biphosphatase deficiency
FBP1-related disorder
Inborn genetic diseases
Key Variants
RS1064795826
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS112446147
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS1248299502
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS139264724
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS140222720
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS143832764
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS147392679
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS148942437
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS1554682769
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS1827646865
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
RS200679026
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, FBP1-related disorder, Fructose-biphosphatase deficiency
Health Risk
RS201591116
Conflicting classifications of pathogenicity
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064795826 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS112446147 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1248299502 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS139264724 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS140222720 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS143832764 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS147392679 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS148942437 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1554682769 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1827646865 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS200679026 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, FBP1-related disorder, Fructose-biphosphatase deficiency |
| RS201591116 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2131472862 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2274689 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS28369776 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, FBP1-related disorder, Fructose-biphosphatase deficiency |
| RS370920869 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS377759037 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS569127795 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS747269745 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS760291471 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS865779742 | Health Risk | Conflicting classifications of pathogenicity | Fructose-biphosphatase deficiency, Inborn genetic diseases, Fructose-biphosphatase deficiency |
| RS1460544928 | Health Risk | Likely pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1563983269 | Health Risk | Likely pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1563984164 | Health Risk | Likely pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2538936163 | Health Risk | Likely pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS754248755 | Health Risk | Likely pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS762007074 | Health Risk | Likely pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS765743651 | Health Risk | Likely pathogenic | — |
| RS780528686 | Health Risk | Likely pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1057517733 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, FBP1-related disorder, Fructose-biphosphatase deficiency |
| RS1060499726 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1085308003 | Health Risk | Pathogenic | — |
| RS111437558 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1211553665 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS121918189 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS121918190 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS121918191 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS121918192 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1344235154 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1554679825 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1563979243 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1563983184 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1563991556 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS1827757538 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2131486442 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2131509216 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2538927166 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2538927195 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2538927481 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS2538930006 | Health Risk | Pathogenic | Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |