i6006892
From SNPedia
| 23andMe data | I6006892 |
| 23andMe search | I6006892 |
| opensnp | I6006892 |
| iGeno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | normal |
| (G;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 4 | hypophosphatasia |
i6006892, also known as c.738G>T or p.R246S, 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 childhood form of hypophosphatasia.
