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i6006977

From SNPedia
23andMe dataI6006977
23andMe searchI6006977
opensnpI6006977
iGeno Mag Summary
(A;A) 0 normal
(A;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i6006977, also known as c.917A>T or p.D306V, 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.