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i6007028

From SNPedia

23andMe dataI6007028
23andMe searchI6007028
opensnpI6007028
iGeno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i6007028, also known as c.50C> T or p.S17F, 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.