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i6006982

From SNPedia

23andMe dataI6006982
23andMe searchI6006982
opensnpI6006982
iGeno Mag Summary
(A;A) 0 normal
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 4 hypophosphatasia

i6006982, also known as c.1427A>G or p.E476G, 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 perinatal form of hypophosphatasia.