rs34810399
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 | 21577454 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34810399 |
| dbSNP (classic) | rs34810399 |
| ClinGen | rs34810399 |
| ebi | rs34810399 |
| HLI | rs34810399 |
| Exac | rs34810399 |
| Gnomad | rs34810399 |
| Varsome | rs34810399 |
| LitVar | rs34810399 |
| Map | rs34810399 |
| PheGenI | rs34810399 |
| Biobank | rs34810399 |
| 1000 genomes | rs34810399 |
| hgdp | rs34810399 |
| ensembl | rs34810399 |
| geneview | rs34810399 |
| scholar | rs34810399 |
| rs34810399 | |
| pharmgkb | rs34810399 |
| gwascentral | rs34810399 |
| openSNP | rs34810399 |
| 23andMe | rs34810399 |
| SNPshot | rs34810399 |
| SNPdbe | rs34810399 |
| MSV3d | rs34810399 |
| GWAS Ctlg | rs34810399 |
| Max Magnitude | 4 |
rs34810399, also known as c.1381G>A or p.V461I, 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 asymptomatic, low BMD form of hypophosphatasia.
| ClinVar | |
|---|---|
| Risk | Rs34810399(A;A) |
| Alt | Rs34810399(A;A) |
| Reference | Rs34810399(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Hypophosphatasia |
| Variation | info |
| Gene | ALPL |
| CLNDBN | Hypophosphatasia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.21903947G>A |
| CLNSRC | |
| CLNACC | RCV000390811.1, |
