rs765458125
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | hypophosphatasia |
| (A;C) | 3 | carrier of a hypophosphatasia allele |
| (C;C) | 0 | normal |
| Make rs765458125(C;T) |
| Make rs765458125(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 21573676 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs765458125 |
| dbSNP (classic) | rs765458125 |
| ClinGen | rs765458125 |
| ebi | rs765458125 |
| HLI | rs765458125 |
| Exac | rs765458125 |
| Gnomad | rs765458125 |
| Varsome | rs765458125 |
| LitVar | rs765458125 |
| Map | rs765458125 |
| PheGenI | rs765458125 |
| Biobank | rs765458125 |
| 1000 genomes | rs765458125 |
| hgdp | rs765458125 |
| ensembl | rs765458125 |
| geneview | rs765458125 |
| scholar | rs765458125 |
| rs765458125 | |
| pharmgkb | rs765458125 |
| gwascentral | rs765458125 |
| openSNP | rs765458125 |
| 23andMe | rs765458125 |
| SNPshot | rs765458125 |
| SNPdbe | rs765458125 |
| MSV3d | rs765458125 |
| GWAS Ctlg | rs765458125 |
| Max Magnitude | 4 |
rs765458125, also known as c.874C>A or p.P292T, 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.
This SNP is referred to as i6006991 by 23andMe.
