Have questions? Visit https://www.reddit.com/r/SNPedia

i6006889

From SNPedia
23andMe dataI6006889
23andMe searchI6006889
opensnpI6006889
Gene (via rs)ALPL
iGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 0 normal

aliasrs780583917
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 0 normal

i6006889, also known as c.401C>A or p.T134N, 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.