i6006921
From SNPedia
23andMe data | I6006921 |
23andMe search | I6006921 |
opensnp | I6006921 |
Gene (via rs) | ALPL |
iGeno | Mag | Summary |
---|---|---|
(C;C) | 0 | normal |
(C;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 4 | hypophosphatasia |
alias | rs768555495 |
Rs_StabilizedOrientation | plus |
RsGeno | Mag | Summary |
---|---|---|
(C;C) | 0 | normal |
(C;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 4 | hypophosphatasia |
i6006921, also known as c.920C>T or p.P307L, 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 childhood form of hypophosphatasia.