i5012683
From SNPedia
| 23andMe data | I5012683 |
| 23andMe search | I5012683 |
| opensnp | I5012683 |
| Gene (via rs) | ALPL |
| iGeno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 4 | hypophosphatasia |
| alias | rs121918008 |
| Rs_StabilizedOrientation | plus |
| RsGeno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 4 | hypophosphatasia |
i5012683, also known as c.1133A>T or p.D378V, 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.
