i6006971
From SNPedia
| 23andMe data | I6006971 |
| 23andMe search | I6006971 |
| opensnp | I6006971 |
| iGeno | Mag | Summary |
|---|---|---|
| (C;C) | 4 | hypophosphatasia |
| (C;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 0 | normal |
i6006971, also known as c.982T>C or p.F328L, 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 non-lethal form of hypophosphatasia.
