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i6006897

From SNPedia

23andMe dataI6006897
23andMe searchI6006897
opensnpI6006897
Gene (via rs)ALPL
iGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal

aliasrs751977466
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal

i6006897, also known as c.1184T>C or p.I395T, 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.