i5002769
From SNPedia
| 23andMe data | I5002769 |
| 23andMe search | I5002769 |
| opensnp | I5002769 |
| Gene (via rs) | ALPL |
| Gene | ALPL |
| Chromosome | 1 |
| Position | 21903131 |
| iGeno | Mag | Summary |
|---|---|---|
| (C;C) | 4 | hypophosphatasia |
| (C;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 0 | normal |
| alias | rs121918006 |
| Rs_StabilizedOrientation | plus |
| RsGeno | Mag | Summary |
|---|---|---|
| (C;C) | 4 | hypophosphatasia |
| (C;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 0 | normal |
i5002769, also known as c.1306T>C or p.Y436H, 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 childhood form of hypophosphatasia.
