i6007023
From SNPedia
| 23andMe data | I6007023 |
| 23andMe search | I6007023 |
| opensnp | I6007023 |
| iGeno | Mag | Summary |
|---|---|---|
| (C;C) | 4 | hypophosphatasia |
| (C;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 0 | normal |
i6007023, also known as c.1268T>C or p.V423A, 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.
