rs769020799
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 4 | hypophosphatasia |
| (C;G) | 3 | carrier of a hypophosphatasia allele |
| (G;G) | 0 | normal |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 21568116 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs769020799 |
| dbSNP (classic) | rs769020799 |
| ClinGen | rs769020799 |
| ebi | rs769020799 |
| HLI | rs769020799 |
| Exac | rs769020799 |
| Gnomad | rs769020799 |
| Varsome | rs769020799 |
| LitVar | rs769020799 |
| Map | rs769020799 |
| PheGenI | rs769020799 |
| Biobank | rs769020799 |
| 1000 genomes | rs769020799 |
| hgdp | rs769020799 |
| ensembl | rs769020799 |
| geneview | rs769020799 |
| scholar | rs769020799 |
| rs769020799 | |
| pharmgkb | rs769020799 |
| gwascentral | rs769020799 |
| openSNP | rs769020799 |
| 23andMe | rs769020799 |
| SNPshot | rs769020799 |
| SNPdbe | rs769020799 |
| MSV3d | rs769020799 |
| GWAS Ctlg | rs769020799 |
| Max Magnitude | 4 |
rs769020799, also known as c.661G>C or p.G221R, 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.
