rs121918016
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 38.1/141 |
| Chromosome | 1 |
| Position | 21577439 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918016 |
| dbSNP (classic) | rs121918016 |
| ClinGen | rs121918016 |
| ebi | rs121918016 |
| HLI | rs121918016 |
| Exac | rs121918016 |
| Gnomad | rs121918016 |
| Varsome | rs121918016 |
| LitVar | rs121918016 |
| Map | rs121918016 |
| PheGenI | rs121918016 |
| Biobank | rs121918016 |
| 1000 genomes | rs121918016 |
| hgdp | rs121918016 |
| ensembl | rs121918016 |
| geneview | rs121918016 |
| scholar | rs121918016 |
| rs121918016 | |
| pharmgkb | rs121918016 |
| gwascentral | rs121918016 |
| openSNP | rs121918016 |
| 23andMe | rs121918016 |
| SNPshot | rs121918016 |
| SNPdbe | rs121918016 |
| MSV3d | rs121918016 |
| GWAS Ctlg | rs121918016 |
| Max Magnitude | 4 |
rs121918016, also known as c.1366G>A or p.G456R, 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 i6006956 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs121918016(A;A) |
| Alt | Rs121918016(A;A) |
| Reference | Rs121918016(G;G) |
| Significance | Pathogenic |
| Disease | Infantile hypophosphatasia |
| Variation | info |
| Gene | ALPL |
| CLNDBN | Infantile hypophosphatasia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.21903932G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014674.20, |
