i6006993
From SNPedia
| 23andMe data | I6006993 |
| 23andMe search | I6006993 |
| opensnp | I6006993 |
| iGeno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 4 | hypophosphatasia |
i6006993, also known as c.1328C>T or p.A443V, 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 adult form of hypophosphatasia.
