rs768555495
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 | 21573722 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs768555495 |
| dbSNP (classic) | rs768555495 |
| ClinGen | rs768555495 |
| ebi | rs768555495 |
| HLI | rs768555495 |
| Exac | rs768555495 |
| Gnomad | rs768555495 |
| Varsome | rs768555495 |
| LitVar | rs768555495 |
| Map | rs768555495 |
| PheGenI | rs768555495 |
| Biobank | rs768555495 |
| 1000 genomes | rs768555495 |
| hgdp | rs768555495 |
| ensembl | rs768555495 |
| geneview | rs768555495 |
| scholar | rs768555495 |
| rs768555495 | |
| pharmgkb | rs768555495 |
| gwascentral | rs768555495 |
| openSNP | rs768555495 |
| 23andMe | rs768555495 |
| SNPshot | rs768555495 |
| SNPdbe | rs768555495 |
| MSV3d | rs768555495 |
| GWAS Ctlg | rs768555495 |
| Max Magnitude | 4 |
rs768555495, also known as c.920C>T or p.P307L, 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 i6006921 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs768555495(T;T) |
| Alt | Rs768555495(T;T) |
| Reference | Rs768555495(C;C) |
| Significance | Unknown |
| Disease | not specified |
| Variation | info |
| Gene | ALPL |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000001.10:g.21900215C>T |
| CLNSRC | |
| CLNACC | RCV000322603.1, |
