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i5012683

From SNPedia

23andMe dataI5012683
23andMe searchI5012683
opensnpI5012683
Gene (via rs)ALPL
iGeno Mag Summary
(A;A) 0 normal
(A;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

aliasrs121918008
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(A;A) 0 normal
(A;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i5012683, also known as c.1133A>T or p.D378V, 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.