i6006959
From SNPedia
23andMe data | I6006959 |
23andMe search | I6006959 |
opensnp | I6006959 |
iGeno | Mag | Summary |
---|---|---|
(G;G) | 0 | normal |
(G;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 4 | hypophosphatasia |
i6006959, also known as c.1276G>T or p.G426C, 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.