i6006978
From SNPedia
| 23andMe data | I6006978 |
| 23andMe search | I6006978 |
| opensnp | I6006978 |
| iGeno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | hypophosphatasia |
| (A;C) | 3 | carrier of a hypophosphatasia allele |
| (C;C) | 0 | normal |
i6006978, also known as c.567C>A or p.D189E, 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.
