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i6006926

From SNPedia

23andMe dataI6006926
23andMe searchI6006926
opensnpI6006926
Gene (via rs)ALPL
iGeno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

aliasrs766076920
Rs_StabilizedOrientation
RsGeno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i6006926, also known as c.667C>T or p.R223W, 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.