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i6007004

From SNPedia

23andMe dataI6007004
23andMe searchI6007004
opensnpI6007004
Gene (via rs)ALPL
iGeno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

aliasrs745830614
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(G;G) 0 normal
(G;T) 3 carrier of a hypophosphatasia allele
(T;T) 4 hypophosphatasia

i6007004, also known as c.977G>T or p.G326V, 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.