rs763073466
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 4 | hypophosphatasia |
| (C;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 0 | normal |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 21577473 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs763073466 |
| dbSNP (classic) | rs763073466 |
| ClinGen | rs763073466 |
| ebi | rs763073466 |
| HLI | rs763073466 |
| Exac | rs763073466 |
| Gnomad | rs763073466 |
| Varsome | rs763073466 |
| LitVar | rs763073466 |
| Map | rs763073466 |
| PheGenI | rs763073466 |
| Biobank | rs763073466 |
| 1000 genomes | rs763073466 |
| hgdp | rs763073466 |
| ensembl | rs763073466 |
| geneview | rs763073466 |
| scholar | rs763073466 |
| rs763073466 | |
| pharmgkb | rs763073466 |
| gwascentral | rs763073466 |
| openSNP | rs763073466 |
| 23andMe | rs763073466 |
| SNPshot | rs763073466 |
| SNPdbe | rs763073466 |
| MSV3d | rs763073466 |
| GWAS Ctlg | rs763073466 |
| Max Magnitude | 4 |
rs763073466, also known as c.1400T>C or p.M467T, 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.
