rs138690664
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 4 | hypophosphatasia |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 21577421 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138690664 |
| dbSNP (classic) | rs138690664 |
| ClinGen | rs138690664 |
| ebi | rs138690664 |
| HLI | rs138690664 |
| Exac | rs138690664 |
| Gnomad | rs138690664 |
| Varsome | rs138690664 |
| LitVar | rs138690664 |
| Map | rs138690664 |
| PheGenI | rs138690664 |
| Biobank | rs138690664 |
| 1000 genomes | rs138690664 |
| hgdp | rs138690664 |
| ensembl | rs138690664 |
| geneview | rs138690664 |
| scholar | rs138690664 |
| rs138690664 | |
| pharmgkb | rs138690664 |
| gwascentral | rs138690664 |
| openSNP | rs138690664 |
| 23andMe | rs138690664 |
| SNPshot | rs138690664 |
| SNPdbe | rs138690664 |
| MSV3d | rs138690664 |
| GWAS Ctlg | rs138690664 |
| Max Magnitude | 4 |
rs138690664, also known as c.1348C>T or p.R450C, 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 i6006996 by 23andMe.
