rs875989883
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs875989883(A;A) |
| Make rs875989883(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 22219070 |
| Gene | PHEX, PTCHD1-AS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs875989883 |
| dbSNP (classic) | rs875989883 |
| ClinGen | rs875989883 |
| ebi | rs875989883 |
| HLI | rs875989883 |
| Exac | rs875989883 |
| Gnomad | rs875989883 |
| Varsome | rs875989883 |
| LitVar | rs875989883 |
| Map | rs875989883 |
| PheGenI | rs875989883 |
| Biobank | rs875989883 |
| 1000 genomes | rs875989883 |
| hgdp | rs875989883 |
| ensembl | rs875989883 |
| geneview | rs875989883 |
| scholar | rs875989883 |
| rs875989883 | |
| pharmgkb | rs875989883 |
| gwascentral | rs875989883 |
| openSNP | rs875989883 |
| 23andMe | rs875989883 |
| SNPshot | rs875989883 |
| SNPdbe | rs875989883 |
| MSV3d | rs875989883 |
| GWAS Ctlg | rs875989883 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs875989883(A;A) |
| Alt | rs875989883(A;A) |
| Reference | Rs875989883(G;G) |
| Significance | Pathogenic |
| Disease | Familial X-linked hypophosphatemic vitamin D refractory rickets not provided |
| Variation | info |
| Gene | PTCHD1-AS PHEX |
| CLNDBN | Familial X-linked hypophosphatemic vitamin D refractory rickets not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.22237187G>A |
| CLNSRC | University Hospital of Geneva |
| CLNACC | RCV000211521.1, RCV000396672.2, |
