i6006968
From SNPedia
23andMe data | I6006968 |
23andMe search | I6006968 |
opensnp | I6006968 |
iGeno | Mag | Summary |
---|---|---|
(C;C) | 4 | hypophosphatasia |
(C;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 0 | normal |
i6006968, also known as c.824T>C or p.L275P, 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.