rs371243939
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 | 21575906 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs371243939 |
| dbSNP (classic) | rs371243939 |
| ClinGen | rs371243939 |
| ebi | rs371243939 |
| HLI | rs371243939 |
| Exac | rs371243939 |
| Gnomad | rs371243939 |
| Varsome | rs371243939 |
| LitVar | rs371243939 |
| Map | rs371243939 |
| PheGenI | rs371243939 |
| Biobank | rs371243939 |
| 1000 genomes | rs371243939 |
| hgdp | rs371243939 |
| ensembl | rs371243939 |
| geneview | rs371243939 |
| scholar | rs371243939 |
| rs371243939 | |
| pharmgkb | rs371243939 |
| gwascentral | rs371243939 |
| openSNP | rs371243939 |
| 23andMe | rs371243939 |
| SNPshot | rs371243939 |
| SNPdbe | rs371243939 |
| MSV3d | rs371243939 |
| GWAS Ctlg | rs371243939 |
| Max Magnitude | 4 |
rs371243939, also known as c.1171C>T or p.R391C, 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.
This SNP is referred to as i6006927 by 23andMe.
