rs62514904
From SNPedia
| Merged into | rs62508727 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (TCA;TCA) | 0 | common in clinvar |
| Make rs62514904(-;-) |
| Make rs62514904(-;ATC) |
| Make rs62514904(ATC;ATC) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 102894802 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs62514904 |
| dbSNP (classic) | rs62514904 |
| ClinGen | rs62514904 |
| ebi | rs62514904 |
| HLI | rs62514904 |
| Exac | rs62514904 |
| Gnomad | rs62514904 |
| Varsome | rs62514904 |
| LitVar | rs62514904 |
| Map | rs62514904 |
| PheGenI | rs62514904 |
| Biobank | rs62514904 |
| 1000 genomes | rs62514904 |
| hgdp | rs62514904 |
| ensembl | rs62514904 |
| geneview | rs62514904 |
| scholar | rs62514904 |
| rs62514904 | |
| pharmgkb | rs62514904 |
| gwascentral | rs62514904 |
| openSNP | rs62514904 |
| 23andMe | rs62514904 |
| SNPshot | rs62514904 |
| SNPdbe | rs62514904 |
| MSV3d | rs62514904 |
| GWAS Ctlg | rs62514904 |
| Status | Merged into rs62508727 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs62514904(TCA;TCA) |
| Significance | Pathogenic |
| Disease | Phenylketonuria not provided |
| Variation | info |
| Gene | PAH |
| CLNDBN | Phenylketonuria not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103288579_103288581delTGA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000635.4, RCV000078518.6, |
