rs387906525
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 4 | hypophosphatasia |
| (-;T) | 3 | carrier of a hypophosphatasia allele |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 21577632 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387906525 |
| dbSNP (classic) | rs387906525 |
| ClinGen | rs387906525 |
| ebi | rs387906525 |
| HLI | rs387906525 |
| Exac | rs387906525 |
| Gnomad | rs387906525 |
| Varsome | rs387906525 |
| LitVar | rs387906525 |
| Map | rs387906525 |
| PheGenI | rs387906525 |
| Biobank | rs387906525 |
| 1000 genomes | rs387906525 |
| hgdp | rs387906525 |
| ensembl | rs387906525 |
| geneview | rs387906525 |
| scholar | rs387906525 |
| rs387906525 | |
| pharmgkb | rs387906525 |
| gwascentral | rs387906525 |
| openSNP | rs387906525 |
| 23andMe | rs387906525 |
| SNPshot | rs387906525 |
| SNPdbe | rs387906525 |
| MSV3d | rs387906525 |
| GWAS Ctlg | rs387906525 |
| Max Magnitude | 4 |
rs387906525, also known as c.1559delT, 1735delT and p.Leu520Argfs, is a mutation in the ALPL gene on chromosome 1.
This hypophosphatasia associated mutation has been observed primarily in Japanese.[PMID 7833929] It is considered to be inherited in a recessive manner, leading in homozygous or compound heterozygous form to infantile hypophosphatasia.
This SNP is most likely referred to as i5012686 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs387906525(-;-) |
| Alt | Rs387906525(-;-) |
| Reference | Rs387906525(T;T) |
| Significance | Pathogenic |
| Disease | Infantile hypophosphatasia Hypophosphatasia Adult hypophosphatasia |
| Variation | info |
| Gene | ALPL |
| CLNDBN | Infantile hypophosphatasia Hypophosphatasia Adult hypophosphatasia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.21904125delT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014665.26, RCV000207209.1, RCV000346130.1, |
