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i6006991

From SNPedia

23andMe dataI6006991
23andMe searchI6006991
opensnpI6006991
Gene (via rs)ALPL
iGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 0 normal

aliasrs765458125
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 0 normal

i6006991, also known as c.874C>A or p.P292T, 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.