rs778232217
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;G) | 3 | carrier of a hypophosphatasia allele |
| (G;G) | 4 | hypophosphatasia |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 21564080 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs778232217 |
| dbSNP (classic) | rs778232217 |
| ClinGen | rs778232217 |
| ebi | rs778232217 |
| HLI | rs778232217 |
| Exac | rs778232217 |
| Gnomad | rs778232217 |
| Varsome | rs778232217 |
| LitVar | rs778232217 |
| Map | rs778232217 |
| PheGenI | rs778232217 |
| Biobank | rs778232217 |
| 1000 genomes | rs778232217 |
| hgdp | rs778232217 |
| ensembl | rs778232217 |
| geneview | rs778232217 |
| scholar | rs778232217 |
| rs778232217 | |
| pharmgkb | rs778232217 |
| gwascentral | rs778232217 |
| openSNP | rs778232217 |
| 23andMe | rs778232217 |
| SNPshot | rs778232217 |
| SNPdbe | rs778232217 |
| MSV3d | rs778232217 |
| GWAS Ctlg | rs778232217 |
| Max Magnitude | 4 |
rs778232217, also known as c.512A>G or p.H171R, 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 adult form of hypophosphatasia.
This SNP is referred to as i6006912 by 23andMe.
