rs566317085
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | normal |
| (G;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 4 | hypophosphatasia |
| Make rs566317085(C;C) |
| Make rs566317085(C;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 21568117 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs566317085 |
| dbSNP (classic) | rs566317085 |
| ClinGen | rs566317085 |
| ebi | rs566317085 |
| HLI | rs566317085 |
| Exac | rs566317085 |
| Gnomad | rs566317085 |
| Varsome | rs566317085 |
| LitVar | rs566317085 |
| Map | rs566317085 |
| PheGenI | rs566317085 |
| Biobank | rs566317085 |
| 1000 genomes | rs566317085 |
| hgdp | rs566317085 |
| ensembl | rs566317085 |
| geneview | rs566317085 |
| scholar | rs566317085 |
| rs566317085 | |
| pharmgkb | rs566317085 |
| gwascentral | rs566317085 |
| openSNP | rs566317085 |
| 23andMe | rs566317085 |
| SNPshot | rs566317085 |
| SNPdbe | rs566317085 |
| MSV3d | rs566317085 |
| GWAS Ctlg | rs566317085 |
| Max Magnitude | 4 |
rs566317085, also known as c.662G>T or p.G221V, 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.
This SNP is referred to as i6007018 by 23andMe.
