rs74603784
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Carrier of a phenylketonuria mutation |
| (C;T) | 3 | Carrier of a phenylketonuria mutation |
| Make rs74603784(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 102912823 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74603784 |
| dbSNP (classic) | rs74603784 |
| ClinGen | rs74603784 |
| ebi | rs74603784 |
| HLI | rs74603784 |
| Exac | rs74603784 |
| Gnomad | rs74603784 |
| Varsome | rs74603784 |
| LitVar | rs74603784 |
| Map | rs74603784 |
| PheGenI | rs74603784 |
| Biobank | rs74603784 |
| 1000 genomes | rs74603784 |
| hgdp | rs74603784 |
| ensembl | rs74603784 |
| geneview | rs74603784 |
| scholar | rs74603784 |
| rs74603784 | |
| pharmgkb | rs74603784 |
| gwascentral | rs74603784 |
| openSNP | rs74603784 |
| 23andMe | rs74603784 |
| SNPshot | rs74603784 |
| SNPdbe | rs74603784 |
| MSV3d | rs74603784 |
| GWAS Ctlg | rs74603784 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs74603784(T;T) |
| Alt | rs74603784(T;T) |
| Reference | Rs74603784(C;C) |
| Significance | Pathogenic |
| Disease | Phenylketonuria not provided |
| Variation | info |
| Gene | PAH |
| CLNDBN | Phenylketonuria not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.103306601C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000661.4, RCV000088836.1, |
