rs751292739
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 | 21575847 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs751292739 |
| dbSNP (classic) | rs751292739 |
| ClinGen | rs751292739 |
| ebi | rs751292739 |
| HLI | rs751292739 |
| Exac | rs751292739 |
| Gnomad | rs751292739 |
| Varsome | rs751292739 |
| LitVar | rs751292739 |
| Map | rs751292739 |
| PheGenI | rs751292739 |
| Biobank | rs751292739 |
| 1000 genomes | rs751292739 |
| hgdp | rs751292739 |
| ensembl | rs751292739 |
| geneview | rs751292739 |
| scholar | rs751292739 |
| rs751292739 | |
| pharmgkb | rs751292739 |
| gwascentral | rs751292739 |
| openSNP | rs751292739 |
| 23andMe | rs751292739 |
| SNPshot | rs751292739 |
| SNPdbe | rs751292739 |
| MSV3d | rs751292739 |
| GWAS Ctlg | rs751292739 |
| Max Magnitude | 4 |
rs751292739, also known as c.1112C>T or p.T371I, 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 i6006890 by 23andMe.
