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i6006992

From SNPedia

23andMe dataI6006992
23andMe searchI6006992
opensnpI6006992
iGeno Mag Summary
(C;C) 0 normal
(C;G) 3 carrier of a hypophosphatasia allele
(G;G) 4 hypophosphatasia

i6006992, also known as c.577C>G or p.P193A, 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.