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i5002765

From SNPedia

23andMe dataI5002765
23andMe searchI5002765
opensnpI5002765
Gene (via rs)ALPL
GeneALPL
Chromosome1
Position21900274
iGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal

aliasrs121918010
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(C;C) 4 hypophosphatasia
(C;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal

i5002765, also known as c.979T>C or p.F327L, 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.