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i5002771

From SNPedia

23andMe dataI5002771
23andMe searchI5002771
opensnpI5002771
Gene (via rs)ALPL
GeneALPL
Chromosome1
Position21890681
iGeno Mag Summary
(A;A) 0 normal
(A;C) 3 carrier of a hypophosphatasia allele
(A;G) 3 carrier of a hypophosphatasia allele
(C;C) 4 hypophosphatasia
(G;G) 4 hypophosphatasia

aliasrs121918004
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(A;A) 0 normal
(A;C) 3 carrier of a hypophosphatasia allele
(C;C) 4 hypophosphatasia

i5002771, also known as c.620A>C or p.Q207P, 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.