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i6006978

From SNPedia

23andMe dataI6006978
23andMe searchI6006978
opensnpI6006978
iGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 0 normal

i6006978, also known as c.567C>A or p.D189E, 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.