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i6007014

From SNPedia

23andMe dataI6007014
23andMe searchI6007014
opensnpI6007014
iGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

i6007014, also known as c.223G>A or p.G75S, 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.