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i5002757

From SNPedia

23andMe dataI5002757
23andMe searchI5002757
opensnpI5002757
Gene (via rs)ALPL
GeneALPL
Chromosome1
Position21890596
iGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

aliasrs121918000
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

i5002757, also known as c.535G>A or p.A179T, 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.