i6007001
From SNPedia
23andMe data | I6007001 |
23andMe search | I6007001 |
opensnp | I6007001 |
iGeno | Mag | Summary |
---|---|---|
(C;C) | 4 | hypophosphatasia |
(C;G) | 3 | carrier of a hypophosphatasia allele |
(G;G) | 0 | normal |
i6007001, also known as c.1175G>C or p.G392A, 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.