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i6006973

From SNPedia

23andMe dataI6006973
23andMe searchI6006973
opensnpI6006973
iGeno Mag Summary
(A;A) 0 normal
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 4 hypophosphatasia

i6006973, also known as c.670A>G or p.K224E, 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.