rs202022405
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 rs202022405(A;A) |
| Make rs202022405(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 21575805 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202022405 |
| dbSNP (classic) | rs202022405 |
| ClinGen | rs202022405 |
| ebi | rs202022405 |
| HLI | rs202022405 |
| Exac | rs202022405 |
| Gnomad | rs202022405 |
| Varsome | rs202022405 |
| LitVar | rs202022405 |
| Map | rs202022405 |
| PheGenI | rs202022405 |
| Biobank | rs202022405 |
| 1000 genomes | rs202022405 |
| hgdp | rs202022405 |
| ensembl | rs202022405 |
| geneview | rs202022405 |
| scholar | rs202022405 |
| rs202022405 | |
| pharmgkb | rs202022405 |
| gwascentral | rs202022405 |
| openSNP | rs202022405 |
| 23andMe | rs202022405 |
| SNPshot | rs202022405 |
| SNPdbe | rs202022405 |
| MSV3d | rs202022405 |
| GWAS Ctlg | rs202022405 |
| Max Magnitude | 4 |
rs202022405, also known as c.1070G>T or p.R357L, 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 asymptomatic, low BMD form of hypophosphatasia.
