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i6006934

From SNPedia

23andMe dataI6006934
23andMe searchI6006934
opensnpI6006934
iGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

i6006934, also known as c.1354G>A or p.E452K, 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.