rs201105857
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs201105857(C;T) |
| Make rs201105857(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 178222564 |
| Gene | PHYKPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201105857 |
| dbSNP (classic) | rs201105857 |
| ClinGen | rs201105857 |
| ebi | rs201105857 |
| HLI | rs201105857 |
| Exac | rs201105857 |
| Gnomad | rs201105857 |
| Varsome | rs201105857 |
| LitVar | rs201105857 |
| Map | rs201105857 |
| PheGenI | rs201105857 |
| Biobank | rs201105857 |
| 1000 genomes | rs201105857 |
| hgdp | rs201105857 |
| ensembl | rs201105857 |
| geneview | rs201105857 |
| scholar | rs201105857 |
| rs201105857 | |
| pharmgkb | rs201105857 |
| gwascentral | rs201105857 |
| openSNP | rs201105857 |
| 23andMe | rs201105857 |
| SNPshot | rs201105857 |
| SNPdbe | rs201105857 |
| MSV3d | rs201105857 |
| GWAS Ctlg | rs201105857 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201105857(T;T) |
| Alt | rs201105857(T;T) |
| Reference | Rs201105857(C;C) |
| Significance | Pathogenic |
| Disease | Phosphohydroxylysinuria |
| Variation | info |
| Gene | PHYKPL |
| CLNDBN | Phosphohydroxylysinuria |
| Reversed | 0 |
| HGVS | NC_000005.9:g.177649565C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000032769.5, |
