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i6007001

From SNPedia

23andMe dataI6007001
23andMe searchI6007001
opensnpI6007001
iGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

i6007001, also known as c.1175G>C or p.G392A, 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.