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i6007018

From SNPedia

23andMe dataI6007018
23andMe searchI6007018
opensnpI6007018
Gene (via rs)ALPL
iGeno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

aliasrs566317085
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i6007018, also known as c.662G>T or p.G221V, 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 perinatal form of hypophosphatasia.