i6006930
From SNPedia
23andMe data | I6006930 |
23andMe search | I6006930 |
opensnp | I6006930 |
iGeno | Mag | Summary |
---|---|---|
(C;C) | 4 | hypophosphatasia |
(C;G) | 3 | carrier of a hypophosphatasia allele |
(G;G) | 0 | normal |
i6006930, also known as c.1283G>C or p.R428P, 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.