rs78655458
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 3 | Carrier of a phenylketonuria mutation |
| (T;T) | 0 | common in clinvar |
| Make rs78655458(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 102852828 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78655458 |
| dbSNP (classic) | rs78655458 |
| ClinGen | rs78655458 |
| ebi | rs78655458 |
| HLI | rs78655458 |
| Exac | rs78655458 |
| Gnomad | rs78655458 |
| Varsome | rs78655458 |
| LitVar | rs78655458 |
| Map | rs78655458 |
| PheGenI | rs78655458 |
| Biobank | rs78655458 |
| 1000 genomes | rs78655458 |
| hgdp | rs78655458 |
| ensembl | rs78655458 |
| geneview | rs78655458 |
| scholar | rs78655458 |
| rs78655458 | |
| pharmgkb | rs78655458 |
| gwascentral | rs78655458 |
| openSNP | rs78655458 |
| 23andMe | rs78655458 |
| SNPshot | rs78655458 |
| SNPdbe | rs78655458 |
| MSV3d | rs78655458 |
| GWAS Ctlg | rs78655458 |
| Merged from | Rs28934276 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs78655458(G;G) |
| Alt | rs78655458(G;G) |
| Reference | Rs78655458(T;T) |
| Significance | Pathogenic |
| Disease | Phenylketonuria not provided |
| Variation | info |
| Gene | PAH |
| CLNDBN | Phenylketonuria not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103246606A>C |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000634.6, RCV000078531.5, |
