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i6006887

From SNPedia
23andMe dataI6006887
23andMe searchI6006887
opensnpI6006887
iGeno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i6006887, also known as c.500C>T or p.T167M, 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.