i5012684
From SNPedia
| 23andMe data | I5012684 |
| 23andMe search | I5012684 |
| opensnp | I5012684 |
| Gene (via rs) | ALPL |
| iGeno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | hypophosphatasia |
| (A;G) | 3 | carrier of a hypophosphatasia allele |
| (G;G) | 0 | normal |
| alias | rs121918007 |
| Rs_StabilizedOrientation | plus |
| RsGeno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | hypophosphatasia |
| (A;G) | 3 | carrier of a hypophosphatasia allele |
| (G;G) | 0 | normal |
i5012684, also known as c.571G>A or p.E191K, 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.
rs121918007 is the dbSNP name for this SNP.
