rs150799088
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 | 21577422 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs150799088 |
| dbSNP (classic) | rs150799088 |
| ClinGen | rs150799088 |
| ebi | rs150799088 |
| HLI | rs150799088 |
| Exac | rs150799088 |
| Gnomad | rs150799088 |
| Varsome | rs150799088 |
| LitVar | rs150799088 |
| Map | rs150799088 |
| PheGenI | rs150799088 |
| Biobank | rs150799088 |
| 1000 genomes | rs150799088 |
| hgdp | rs150799088 |
| ensembl | rs150799088 |
| geneview | rs150799088 |
| scholar | rs150799088 |
| rs150799088 | |
| pharmgkb | rs150799088 |
| gwascentral | rs150799088 |
| openSNP | rs150799088 |
| 23andMe | rs150799088 |
| SNPshot | rs150799088 |
| SNPdbe | rs150799088 |
| MSV3d | rs150799088 |
| GWAS Ctlg | rs150799088 |
| Max Magnitude | 4 |
rs150799088, also known as c.1349G>A or p.R450H, 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 odonto. form of hypophosphatasia.
This SNP is referred to as i6006940 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs150799088(A;A) |
| Alt | Rs150799088(A;A) |
| Reference | Rs150799088(G;G) |
| Significance | Unknown |
| Disease | not specified |
| Variation | info |
| Gene | ALPL |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000001.10:g.21903915G>A |
| CLNSRC | |
| CLNACC | RCV000494080.1, |
