i6006969
From SNPedia
23andMe data | I6006969 |
23andMe search | I6006969 |
opensnp | I6006969 |
Gene (via rs) | ALPL |
iGeno | Mag | Summary |
---|---|---|
(C;C) | 4 | hypophosphatasia |
(C;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 0 | normal |
alias | rs143358506 |
Rs_StabilizedOrientation | plus |
RsGeno | Mag | Summary |
---|---|---|
(C;C) | 4 | hypophosphatasia |
(C;T) | 3 | carrier of a hypophosphatasia allele |
(T;T) | 0 | normal |
i6006969, also known as c.110T>C or p.L37P, 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.