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i6006946

From SNPedia

23andMe dataI6006946
23andMe searchI6006946
opensnpI6006946
Gene (via rs)ALPL
iGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

aliasrs121918013
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

i6006946, also known as c.346G>A or p.A116T, 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.