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i5012684

From SNPedia

23andMe dataI5012684
23andMe searchI5012684
opensnpI5012684
Gene (via rs)ALPL
iGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

aliasrs121918007
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal

i5012684, also known as c.571G>A or p.E191K, 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.

rs121918007 is the dbSNP name for this SNP.