RS121918019 ALPL
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What This Variant Does
"rs121918019, also known as c.526G>
Associated Conditions
Infantile hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Osteogenesis imperfecta
ALPL-related disorder
Hypophosphataemia or rickets
Infantile hypophosphatasia
Childhood hypophosphatasia
Adult hypophosphatasia
Hypophosphatasia
Osteogenesis imperfecta
ALPL-related disorder
Hypophosphataemia or rickets
GWAS Studies (5)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Serum alkaline phosphatase levels | — | OR: 1.5 | 1E-183 | PubMed |
| Serum alkaline phosphatase levels | A | OR: 1.89 | 2E-171 | PubMed |
| Serum phosphate levels | A | OR: 0.52 | 2E-13 | PubMed |
| Serum alkaline phosphatase levels | A | OR: 1.54 | 4E-12 | PubMed |
| Serum phosphate levels | — | OR: 0.4 | 8E-11 | PubMed |
Other Variants in ALPL