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i5002766

From SNPedia

23andMe dataI5002766
23andMe searchI5002766
opensnpI5002766
Gene (via rs)ALPL
GeneALPL
Chromosome1
Position21902229
iGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

aliasrs121918009
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

i5002766, also known as c.1001G>A or p.G334D, 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.