i6006989
From SNPedia
| 23andMe data | I6006989 |
| 23andMe search | I6006989 |
| opensnp | I6006989 |
| Gene (via rs) | ALPL |
| iGeno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 4 | hypophosphatasia |
| alias | rs770093969 |
| Rs_StabilizedOrientation | plus |
| RsGeno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 4 | hypophosphatasia |
i6006989, also known as c.119C>T or p.A40V, 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.
