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i6007022

From SNPedia

23andMe dataI6007022
23andMe searchI6007022
opensnpI6007022
iGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal

i6007022, also known as c.1333T>C or p.S445P, 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.