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i6006969

From SNPedia

23andMe dataI6006969
23andMe searchI6006969
opensnpI6006969
Gene (via rs)ALPL
iGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal

aliasrs143358506
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal

i6006969, also known as c.110T>C or p.L37P, 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.