rs763244290
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 4 | hypophosphatasia |
| (-;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 0 | normal |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 21560692 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs763244290 |
| dbSNP (classic) | rs763244290 |
| ClinGen | rs763244290 |
| ebi | rs763244290 |
| HLI | rs763244290 |
| Exac | rs763244290 |
| Gnomad | rs763244290 |
| Varsome | rs763244290 |
| LitVar | rs763244290 |
| Map | rs763244290 |
| PheGenI | rs763244290 |
| Biobank | rs763244290 |
| 1000 genomes | rs763244290 |
| hgdp | rs763244290 |
| ensembl | rs763244290 |
| geneview | rs763244290 |
| scholar | rs763244290 |
| rs763244290 | |
| pharmgkb | rs763244290 |
| gwascentral | rs763244290 |
| openSNP | rs763244290 |
| 23andMe | rs763244290 |
| SNPshot | rs763244290 |
| SNPdbe | rs763244290 |
| MSV3d | rs763244290 |
| GWAS Ctlg | rs763244290 |
| Max Magnitude | 4 |
rs763244290, also known as c.129delT or p.Q44RfsX23, 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 childhood form of hypophosphatasia.
