Have questions? Visit https://www.reddit.com/r/SNPedia

i6006979

From SNPedia

23andMe dataI6006979
23andMe searchI6006979
opensnpI6006979
iGeno Mag Summary
(C;C) 0 normal
(C;G) 3 carrier of a hypophosphatasia allele
(G;G) 4 hypophosphatasia

i6006979, also known as c.609C>G or p.D203E, 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.