rs121918020
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 38.1/141 |
| Chromosome | 1 |
| Position | 21570326 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918020 |
| dbSNP (classic) | rs121918020 |
| ClinGen | rs121918020 |
| ebi | rs121918020 |
| HLI | rs121918020 |
| Exac | rs121918020 |
| Gnomad | rs121918020 |
| Varsome | rs121918020 |
| LitVar | rs121918020 |
| Map | rs121918020 |
| PheGenI | rs121918020 |
| Biobank | rs121918020 |
| 1000 genomes | rs121918020 |
| hgdp | rs121918020 |
| ensembl | rs121918020 |
| geneview | rs121918020 |
| scholar | rs121918020 |
| rs121918020 | |
| pharmgkb | rs121918020 |
| gwascentral | rs121918020 |
| openSNP | rs121918020 |
| 23andMe | rs121918020 |
| SNPshot | rs121918020 |
| SNPdbe | rs121918020 |
| MSV3d | rs121918020 |
| GWAS Ctlg | rs121918020 |
| Max Magnitude | 4 |
rs121918020, also known as c.814C>T or p.R272C, 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 perinatal form of hypophosphatasia.
This SNP is referred to as i5002756 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs121918020(T;T) |
| Alt | Rs121918020(T;T) |
| Reference | Rs121918020(C;C) |
| Significance | Pathogenic |
| Disease | Infantile hypophosphatasia Childhood hypophosphatasia |
| Variation | info |
| Gene | ALPL |
| CLNDBN | Infantile hypophosphatasia Childhood hypophosphatasia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.21896819C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014679.21, RCV000169779.2, |
