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i6007015

From SNPedia

23andMe dataI6007015
23andMe searchI6007015
opensnpI6007015
iGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

i6007015, also known as c.187G>C or p.G63R, 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.