RS121918014 ALPL
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What This Variant Does
"rs121918014, also known as c.1250A>
Associated Conditions
Infantile hypophosphatasia
Perinatal lethal hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
ALPL-related disorder
Hypophosphataemia or rickets
Autosomal dominant ALPL-related disorders
Infantile hypophosphatasia
Perinatal lethal hypophosphatasia
Hypophosphatasia
Adult hypophosphatasia
Childhood hypophosphatasia
ALPL-related disorder
Hypophosphataemia or rickets
GWAS Studies (1)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Serum alkaline phosphatase levels | — | OR: 2.61 | 1E-35 | PubMed |
Other Variants in ALPL