RS753338851 ALPL
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What This Variant Does
"rs753338851, also known as c.984_986delCTT or p.F328del, is a SNP in the ALPL gene on chromosome 1. ..."
Associated Conditions
Adult hypophosphatasia
Inborn genetic diseases
Osteogenesis imperfecta
Infantile hypophosphatasia
Childhood hypophosphatasia
ALPL-related autosomal recessive hypophosphatasia
Hypophosphatasia
Autosomal dominant and autosomal recessive ALPL-related disorders
Adult hypophosphatasia
Inborn genetic diseases
Osteogenesis imperfecta
Infantile hypophosphatasia
Childhood hypophosphatasia
ALPL-related autosomal recessive hypophosphatasia
Hypophosphatasia
GWAS Studies (1)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Serum alkaline phosphatase levels | — | OR: 2.01 | 4E-39 | PubMed |
Other Variants in ALPL