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i5002756

From SNPedia

23andMe dataI5002756
23andMe searchI5002756
opensnpI5002756
Gene (via rs)ALPL
GeneALPL
Chromosome1
Position21896819
iGeno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

aliasrs121918020
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(C;C) 0 normal
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i5002756, also known as c.814C>T or p.R272C, 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.