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i5002772

From SNPedia

23andMe dataI5002772
23andMe searchI5002772
opensnpI5002772
Gene (via rs)ALPL
GeneALPL
Chromosome1
Position21887620
iGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

aliasrs121918003
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

i5002772, also known as c.212G>C or p.R71P, 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.