i5012686
From SNPedia
| 23andMe data | I5012686 |
| 23andMe search | I5012686 |
| opensnp | I5012686 |
| Gene (via rs) | ALPL |
| alias | rs387906525 |
| Rs_StabilizedOrientation | plus |
| RsGeno | Mag | Summary |
|---|---|---|
| (-;-) | 4 | hypophosphatasia |
| (-;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 0 | normal |
i5012686, also known as c.1559delT or p.L520RfsX86, 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.
rs387906525 appears to be the dbSNP name for this SNP.
