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i6006959

From SNPedia

23andMe dataI6006959
23andMe searchI6006959
opensnpI6006959
iGeno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i6006959, also known as c.1276G>T or p.G426C, 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.