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i6006892

From SNPedia

23andMe dataI6006892
23andMe searchI6006892
opensnpI6006892
iGeno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i6006892, also known as c.738G>T or p.R246S, 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 childhood form of hypophosphatasia.