GALK1 Chromosome 17
Galactokinase 1
Upload your DNA to see your personal genotypes for variants in GALK1.
What This Gene Does
Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]
Associated Conditions (3)
Deficiency of galactokinase
Inborn genetic diseases
GALK1-related disorder
Key Variants
RS104894576
Conflicting classifications of pathogenicity
Deficiency of galactokinase, Deficiency of galactokinase
Health Risk
RS1184406839
Conflicting classifications of pathogenicity
Deficiency of galactokinase, Deficiency of galactokinase
Health Risk
RS1214866139
Conflicting classifications of pathogenicity
Deficiency of galactokinase, Deficiency of galactokinase
Health Risk
RS1323337681
Conflicting classifications of pathogenicity
Deficiency of galactokinase, Inborn genetic diseases, Deficiency of galactokinase
Health Risk
RS140053358
Conflicting classifications of pathogenicity
Deficiency of galactokinase, Deficiency of galactokinase
Health Risk
RS149825190
Conflicting classifications of pathogenicity
Deficiency of galactokinase, GALK1-related disorder, Deficiency of galactokinase
Health Risk
RS201247556
Conflicting classifications of pathogenicity
Deficiency of galactokinase, GALK1-related disorder, Deficiency of galactokinase
Health Risk
RS367558510
Conflicting classifications of pathogenicity
Deficiency of galactokinase, Deficiency of galactokinase
Health Risk
RS368904895
Conflicting classifications of pathogenicity
Inborn genetic diseases, GALK1-related disorder, Inborn genetic diseases
Health Risk
RS372653001
Conflicting classifications of pathogenicity
Deficiency of galactokinase, Deficiency of galactokinase
Health Risk
RS373041566
Conflicting classifications of pathogenicity
Deficiency of galactokinase, Deficiency of galactokinase
Health Risk
RS545362817
Conflicting classifications of pathogenicity
Deficiency of galactokinase, GALK1-related disorder, Deficiency of galactokinase
Health Risk
All Variants (109)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2545903700 | Health Risk | Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2545903733 | Health Risk | Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2545903771 | Health Risk | Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2545904183 | Health Risk | Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS575077063 | Health Risk | Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS753571180 | Health Risk | Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS761638957 | Health Risk | Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS770871380 | Health Risk | Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS773991014 | Health Risk | Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS104894572 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS104894577 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS111033608 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS1311294794 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase, Deficiency of galactokinase |
| RS1422073677 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS1474376359 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS1555747776 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS1568395061 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS1599335144 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS200095299 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2061564118 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2061594762 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2143585254 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2143601360 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2143608028 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2143608501 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2143608720 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2545899422 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2545899596 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2545899880 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2545900132 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2545900183 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2545900206 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2545900296 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2545903065 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2545904210 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2545905243 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS756290185 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS759699355 | Health Risk | Pathogenic | Deficiency of galactokinase, GALK1-related disorder, Deficiency of galactokinase |
| RS769550271 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS771067891 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS775843885 | Health Risk | Pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS1224987754 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS1362123883 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2061563475 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2061596711 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2061599016 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2061599170 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS2143605190 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS371517491 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of galactokinase, Deficiency of galactokinase |
| RS375690568 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of galactokinase, GALK1-related disorder, Deficiency of galactokinase |