H6PD Chromosome 1
Hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
Upload your DNA to see your personal genotypes for variants in H6PD.
What This Gene Does
There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]
Associated Conditions (3)
Inborn genetic diseases
H6PD-related disorder
Cortisone reductase deficiency 1
Key Variants
RS141948836
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142705829
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143104068
Conflicting classifications of pathogenicity
H6PD-related disorder, H6PD-related disorder
Health Risk
RS144508545
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147469469
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148725451
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201127379
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369125646
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374802298
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS387907167
Pathogenic
Cortisone reductase deficiency 1, Cortisone reductase deficiency 1
Health Risk
RS398122816
Pathogenic
Cortisone reductase deficiency 1, Cortisone reductase deficiency 1
Health Risk
RS398122817
Pathogenic
Cortisone reductase deficiency 1, Cortisone reductase deficiency 1
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141948836 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142705829 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143104068 | Health Risk | Conflicting classifications of pathogenicity | H6PD-related disorder, H6PD-related disorder |
| RS144508545 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147469469 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148725451 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201127379 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369125646 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374802298 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS387907167 | Health Risk | Pathogenic | Cortisone reductase deficiency 1, Cortisone reductase deficiency 1 |
| RS398122816 | Health Risk | Pathogenic | Cortisone reductase deficiency 1, Cortisone reductase deficiency 1 |
| RS398122817 | Health Risk | Pathogenic | Cortisone reductase deficiency 1, Cortisone reductase deficiency 1 |
| RS398122818 | Health Risk | Pathogenic | Cortisone reductase deficiency 1, Cortisone reductase deficiency 1 |
| RS606231222 | Health Risk | Pathogenic | Cortisone reductase deficiency 1, Cortisone reductase deficiency 1 |
| RS774520385 | Health Risk | Pathogenic | — |