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i6006914

From SNPedia

23andMe dataI6006914
23andMe searchI6006914
opensnpI6006914
iGeno Mag Summary
(A;A) 0 normal
(A;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i6006914, also known as c.1468A>T or p.I490F, 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 adult form of hypophosphatasia.