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i6006930

From SNPedia

23andMe dataI6006930
23andMe searchI6006930
opensnpI6006930
iGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

i6006930, also known as c.1283G>C or p.R428P, 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.