rs199475575
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a phenylketonuria mutation |
| Make rs199475575(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 102855316 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199475575 |
| dbSNP (classic) | rs199475575 |
| ClinGen | rs199475575 |
| ebi | rs199475575 |
| HLI | rs199475575 |
| Exac | rs199475575 |
| Gnomad | rs199475575 |
| Varsome | rs199475575 |
| LitVar | rs199475575 |
| Map | rs199475575 |
| PheGenI | rs199475575 |
| Biobank | rs199475575 |
| 1000 genomes | rs199475575 |
| hgdp | rs199475575 |
| ensembl | rs199475575 |
| geneview | rs199475575 |
| scholar | rs199475575 |
| rs199475575 | |
| pharmgkb | rs199475575 |
| gwascentral | rs199475575 |
| openSNP | rs199475575 |
| 23andMe | rs199475575 |
| SNPshot | rs199475575 |
| SNPdbe | rs199475575 |
| MSV3d | rs199475575 |
| GWAS Ctlg | rs199475575 |
| Max Magnitude | 3 |
aka c.526C>T (p.Arg176Ter or R176X)
| ClinVar | |
|---|---|
| Risk | rs199475575(T;T) |
| Alt | rs199475575(T;T) |
| Reference | Rs199475575(C;C) |
| Significance | Pathogenic |
| Disease | not provided Phenylketonuria |
| Variation | info |
| Gene | PAH |
| CLNDBN | not provided Phenylketonuria |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103249094G>A |
| CLNSRC | |
| CLNACC | RCV000088971.3, RCV000179282.1, |
