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i5012686

From SNPedia

23andMe dataI5012686
23andMe searchI5012686
opensnpI5012686
Gene (via rs)ALPL

aliasrs387906525
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(-;-) 4 hypophosphatasia
(-;T) 3 carrier of a hypophosphatasia allele
(T;T) 0 normal

i5012686, also known as c.1559delT or p.L520RfsX86, 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.

rs387906525 appears to be the dbSNP name for this SNP.