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i6006996

From SNPedia

23andMe dataI6006996
23andMe searchI6006996
opensnpI6006996
Gene (via rs)ALPL
iGeno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

aliasrs138690664
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i6006996, also known as c.1348C>T or p.R450C, 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 infantile form of hypophosphatasia.