rs104894279
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs104894279(A;G) |
| Make rs104894279(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 112233464 |
| Gene | PTS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894279 |
| dbSNP (classic) | rs104894279 |
| ClinGen | rs104894279 |
| ebi | rs104894279 |
| HLI | rs104894279 |
| Exac | rs104894279 |
| Gnomad | rs104894279 |
| Varsome | rs104894279 |
| LitVar | rs104894279 |
| Map | rs104894279 |
| PheGenI | rs104894279 |
| Biobank | rs104894279 |
| 1000 genomes | rs104894279 |
| hgdp | rs104894279 |
| ensembl | rs104894279 |
| geneview | rs104894279 |
| scholar | rs104894279 |
| rs104894279 | |
| pharmgkb | rs104894279 |
| gwascentral | rs104894279 |
| openSNP | rs104894279 |
| 23andMe | rs104894279 |
| SNPshot | rs104894279 |
| SNPdbe | rs104894279 |
| MSV3d | rs104894279 |
| GWAS Ctlg | rs104894279 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104894279(G;G) |
| Alt | rs104894279(G;G) |
| Reference | Rs104894279(A;A) |
| Significance | Pathogenic |
| Disease | Hyperphenylalaninemia |
| Variation | info |
| Gene | PTS |
| CLNDBN | Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency |
| Reversed | 0 |
| HGVS | NC_000011.9:g.112104187A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000512.4, |
