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i5002773

From SNPedia

23andMe dataI5002773
23andMe searchI5002773
opensnpI5002773
Gene (via rs)ALPL
GeneALPL
Chromosome1
Position21900176
iGeno Mag Summary
(A;A) 0 normal
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 4 hypophosphatasia

aliasrs121918002
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(A;A) 0 normal
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 4 hypophosphatasia

i5002773, also known as c.881A>C or p.D294A, 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 infantile form of hypophosphatasia.