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i6007017

From SNPedia

23andMe dataI6007017
23andMe searchI6007017
opensnpI6007017
iGeno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i6007017, also known as c.188G>T or p.G63V, 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.