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i6006984

From SNPedia

23andMe dataI6006984
23andMe searchI6006984
opensnpI6006984
iGeno Mag Summary
(A;A) 0 normal
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 4 hypophosphatasia

i6006984, also known as c.184A>G or p.M62V, 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.