rs567349821
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;G) | 3 | carrier of a hypophosphatasia allele |
| (G;G) | 4 | hypophosphatasia |
| Make rs567349821(C;T) |
| Make rs567349821(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 21575812 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs567349821 |
| dbSNP (classic) | rs567349821 |
| ClinGen | rs567349821 |
| ebi | rs567349821 |
| HLI | rs567349821 |
| Exac | rs567349821 |
| Gnomad | rs567349821 |
| Varsome | rs567349821 |
| LitVar | rs567349821 |
| Map | rs567349821 |
| PheGenI | rs567349821 |
| Biobank | rs567349821 |
| 1000 genomes | rs567349821 |
| hgdp | rs567349821 |
| ensembl | rs567349821 |
| geneview | rs567349821 |
| scholar | rs567349821 |
| rs567349821 | |
| pharmgkb | rs567349821 |
| gwascentral | rs567349821 |
| openSNP | rs567349821 |
| 23andMe | rs567349821 |
| SNPshot | rs567349821 |
| SNPdbe | rs567349821 |
| MSV3d | rs567349821 |
| GWAS Ctlg | rs567349821 |
| Max Magnitude | 4 |
rs567349821, also known as c.1077C>G or p.I359M, 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.
