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i5002758

From SNPedia

23andMe dataI5002758
23andMe searchI5002758
opensnpI5002758
Gene (via rs)ALPL
GeneALPL
Chromosome1
Position21894694
iGeno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

aliasrs121918018
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i5002758, also known as c.746G>T or p.G249V, 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.