i6006977
From SNPedia
23andMe data | I6006977 |
23andMe search | I6006977 |
opensnp | I6006977 |
iGeno | Mag | Summary |
---|---|---|
(A;A) | 0 | normal |
(A;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 4 | hypophosphatasia |
i6006977, also known as c.917A>T or p.D306V, 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.