i5002756
From SNPedia
| 23andMe data | I5002756 |
| 23andMe search | I5002756 |
| opensnp | I5002756 |
| Gene (via rs) | ALPL |
| Gene | ALPL |
| Chromosome | 1 |
| Position | 21896819 |
| alias | rs121918020 |
| Rs_StabilizedOrientation | plus |
| RsGeno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 4 | hypophosphatasia |
i5002756, also known as c.814C>T or p.R272C, is a SNP in the ALPL gene on chromosome 1. Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.
