Have questions? Visit https://www.reddit.com/r/SNPedia

i6006916

From SNPedia

23andMe dataI6006916
23andMe searchI6006916
opensnpI6006916
iGeno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i6006916, also known as c.511C>T or p.H171Y, 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.