rs62517167
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 5.9 | Non-phenylketonuria hyperphenylalaninemia genotype |
| (C;T) | 3 | Carrier of a non-phenylketonuria hyperphenylalaninemia allele |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 102894794 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs62517167 |
| dbSNP (classic) | rs62517167 |
| ClinGen | rs62517167 |
| ebi | rs62517167 |
| HLI | rs62517167 |
| Exac | rs62517167 |
| Gnomad | rs62517167 |
| Varsome | rs62517167 |
| LitVar | rs62517167 |
| Map | rs62517167 |
| PheGenI | rs62517167 |
| Biobank | rs62517167 |
| 1000 genomes | rs62517167 |
| hgdp | rs62517167 |
| ensembl | rs62517167 |
| geneview | rs62517167 |
| scholar | rs62517167 |
| rs62517167 | |
| pharmgkb | rs62517167 |
| gwascentral | rs62517167 |
| openSNP | rs62517167 |
| 23andMe | rs62517167 |
| SNPshot | rs62517167 |
| SNPdbe | rs62517167 |
| MSV3d | rs62517167 |
| GWAS Ctlg | rs62517167 |
| Max Magnitude | 5.9 |
| ClinVar | |
|---|---|
| Risk | Rs62517167(C;C) |
| Alt | Rs62517167(C;C) |
| Reference | Rs62517167(T;T) |
| Significance | Pathogenic |
| Disease | Mild non-PKU hyperphenylalanemia not provided |
| Variation | info |
| Gene | PAH |
| CLNDBN | Mild non-PKU hyperphenylalanemia not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103288572A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000659.3, RCV000088892.1, |
