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i6006912

From SNPedia

23andMe dataI6006912
23andMe searchI6006912
opensnpI6006912
Gene (via rs)ALPL
iGeno Mag Summary
(A;A) 0 normal
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 4 hypophosphatasia

aliasrs778232217
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(A;A) 0 normal
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 4 hypophosphatasia

i6006912, also known as c.512A>G or p.H171R, 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 adult form of hypophosphatasia.