i6006991
From SNPedia
23andMe data | I6006991 |
23andMe search | I6006991 |
opensnp | I6006991 |
Gene (via rs) | ALPL |
iGeno | Mag | Summary |
---|---|---|
(A;A) | 4 | hypophosphatasia |
(A;C) | 3 | carrier of a hypophosphatasia allele |
(C;C) | 0 | normal |
alias | rs765458125 |
Rs_StabilizedOrientation | plus |
RsGeno | Mag | Summary |
---|---|---|
(A;A) | 4 | hypophosphatasia |
(A;C) | 3 | carrier of a hypophosphatasia allele |
(C;C) | 0 | normal |
i6006991, also known as c.874C>A or p.P292T, 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 infantile form of hypophosphatasia.