i5002757
From SNPedia
| 23andMe data | I5002757 |
| 23andMe search | I5002757 |
| opensnp | I5002757 |
| Gene (via rs) | ALPL |
| Gene | ALPL |
| Chromosome | 1 |
| Position | 21890596 |
| iGeno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | hypophosphatasia |
| (A;G) | 3 | carrier of a hypophosphatasia allele |
| (G;G) | 0 | normal |
| alias | rs121918000 |
| Rs_StabilizedOrientation | plus |
| RsGeno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | hypophosphatasia |
| (A;G) | 3 | carrier of a hypophosphatasia allele |
| (G;G) | 0 | normal |
i5002757, also known as c.535G>A or p.A179T, 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.
