i6006933
From SNPedia
| 23andMe data | I6006933 |
| 23andMe search | I6006933 |
| opensnp | I6006933 |
| Gene (via rs) | ALPL |
| iGeno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | hypophosphatasia |
| (A;G) | 3 | carrier of a hypophosphatasia allele |
| (G;G) | 0 | normal |
| alias | rs763457259 |
| Rs_StabilizedOrientation | plus |
| RsGeno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | hypophosphatasia |
| (A;G) | 3 | carrier of a hypophosphatasia allele |
| (G;G) | 0 | normal |
i6006933, also known as c.931G>A or p.E311K, 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.
