rs75166491
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a phenylketonuria mutation |
| Make rs75166491(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 12 |
| Position | 102866633 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75166491 |
| dbSNP (classic) | rs75166491 |
| ClinGen | rs75166491 |
| ebi | rs75166491 |
| HLI | rs75166491 |
| Exac | rs75166491 |
| Gnomad | rs75166491 |
| Varsome | rs75166491 |
| LitVar | rs75166491 |
| Map | rs75166491 |
| PheGenI | rs75166491 |
| Biobank | rs75166491 |
| 1000 genomes | rs75166491 |
| hgdp | rs75166491 |
| ensembl | rs75166491 |
| geneview | rs75166491 |
| scholar | rs75166491 |
| rs75166491 | |
| pharmgkb | rs75166491 |
| gwascentral | rs75166491 |
| openSNP | rs75166491 |
| 23andMe | rs75166491 |
| SNPshot | rs75166491 |
| SNPdbe | rs75166491 |
| MSV3d | rs75166491 |
| GWAS Ctlg | rs75166491 |
| Max Magnitude | 3 |
aka c.472C>T (p.Arg158Trp)
FTDNA & MyHeritage name: VG12S8319
| ClinVar | |
|---|---|
| Risk | rs75166491(T;T) |
| Alt | rs75166491(T;T) |
| Reference | Rs75166491(C;C) |
| Significance | Pathogenic |
| Disease | not provided Phenylketonuria |
| Variation | info |
| Gene | PAH |
| CLNDBN | not provided Phenylketonuria |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103260411G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000088941.1, RCV000409986.1, |
