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i5002769

From SNPedia

23andMe dataI5002769
23andMe searchI5002769
opensnpI5002769
Gene (via rs)ALPL
GeneALPL
Chromosome1
Position21903131
iGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal

aliasrs121918006
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal

i5002769, also known as c.1306T>C or p.Y436H, 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 childhood form of hypophosphatasia.