rs771540767
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | hypophosphatasia |
| (A;G) | 3 | carrier of a hypophosphatasia allele |
| (G;G) | 0 | normal |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 21575879 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs771540767 |
| dbSNP (classic) | rs771540767 |
| ClinGen | rs771540767 |
| ebi | rs771540767 |
| HLI | rs771540767 |
| Exac | rs771540767 |
| Gnomad | rs771540767 |
| Varsome | rs771540767 |
| LitVar | rs771540767 |
| Map | rs771540767 |
| PheGenI | rs771540767 |
| Biobank | rs771540767 |
| 1000 genomes | rs771540767 |
| hgdp | rs771540767 |
| ensembl | rs771540767 |
| geneview | rs771540767 |
| scholar | rs771540767 |
| rs771540767 | |
| pharmgkb | rs771540767 |
| gwascentral | rs771540767 |
| openSNP | rs771540767 |
| 23andMe | rs771540767 |
| SNPshot | rs771540767 |
| SNPdbe | rs771540767 |
| MSV3d | rs771540767 |
| GWAS Ctlg | rs771540767 |
| Max Magnitude | 4 |
rs771540767, also known as c.1144G>A or p.V382I, 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 i6006962 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs771540767(A;A) |
| Alt | Rs771540767(A;A) |
| Reference | Rs771540767(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Infantile hypophosphatasia |
| Variation | info |
| Gene | ALPL |
| CLNDBN | Infantile hypophosphatasia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.21902372G>A |
| CLNSRC | |
| CLNACC | RCV000411905.1, |
