i5002773
From SNPedia
| 23andMe data | I5002773 |
| 23andMe search | I5002773 |
| opensnp | I5002773 |
| Gene (via rs) | ALPL |
| Gene | ALPL |
| Chromosome | 1 |
| Position | 21900176 |
| iGeno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;C) | 3 | carrier of a hypophosphatasia allele |
| (C;C) | 4 | hypophosphatasia |
| alias | rs121918002 |
| Rs_StabilizedOrientation | plus |
| RsGeno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;C) | 3 | carrier of a hypophosphatasia allele |
| (C;C) | 4 | hypophosphatasia |
i5002773, also known as c.881A>C or p.D294A, 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 infantile form of hypophosphatasia.
