i6006926
From SNPedia
23andMe data | I6006926 |
23andMe search | I6006926 |
opensnp | I6006926 |
Gene (via rs) | ALPL |
iGeno | Mag | Summary |
---|---|---|
(C;C) | 0 | normal |
(C;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 4 | hypophosphatasia |
alias | rs766076920 |
Rs_StabilizedOrientation | plus |
RsGeno | Mag | Summary |
---|---|---|
(C;C) | 0 | normal |
(C;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 4 | hypophosphatasia |
i6006926, also known as c.667C>T or p.R223W, 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.