rs748031071
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;G) | 3 | carrier of a hypophosphatasia allele |
| (G;G) | 4 | hypophosphatasia |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 21564197 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs748031071 |
| dbSNP (classic) | rs748031071 |
| ClinGen | rs748031071 |
| ebi | rs748031071 |
| HLI | rs748031071 |
| Exac | rs748031071 |
| Gnomad | rs748031071 |
| Varsome | rs748031071 |
| LitVar | rs748031071 |
| Map | rs748031071 |
| PheGenI | rs748031071 |
| Biobank | rs748031071 |
| 1000 genomes | rs748031071 |
| hgdp | rs748031071 |
| ensembl | rs748031071 |
| geneview | rs748031071 |
| scholar | rs748031071 |
| rs748031071 | |
| pharmgkb | rs748031071 |
| gwascentral | rs748031071 |
| openSNP | rs748031071 |
| 23andMe | rs748031071 |
| SNPshot | rs748031071 |
| SNPdbe | rs748031071 |
| MSV3d | rs748031071 |
| GWAS Ctlg | rs748031071 |
| Max Magnitude | 4 |
rs748031071, also known as c.629A>G or p.H210R, 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 childhood form of hypophosphatasia.
