i6006973
From SNPedia
| 23andMe data | I6006973 |
| 23andMe search | I6006973 |
| opensnp | I6006973 |
| iGeno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;G) | 3 | carrier of a hypophosphatasia allele |
| (G;G) | 4 | hypophosphatasia |
i6006973, also known as c.670A>G or p.K224E, 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 infantile form of hypophosphatasia.
