i6006880
From SNPedia
23andMe data | I6006880 |
23andMe search | I6006880 |
opensnp | I6006880 |
iGeno | Mag | Summary |
---|---|---|
(A;A) | 0 | normal |
(A;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 4 | hypophosphatasia |
i6006880, also known as c.1433A>T or p.N478I, 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.