rs786200861
From SNPedia
| Merged into | rs62516096 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;TCT) | 3 | Carrier of a phenylketonuria mutation |
| (TCT;TCT) | 0 | common in clinvar |
| Make rs786200861(-;-) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 102843751 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786200861 |
| dbSNP (classic) | rs786200861 |
| ClinGen | rs786200861 |
| ebi | rs786200861 |
| HLI | rs786200861 |
| Exac | rs786200861 |
| Gnomad | rs786200861 |
| Varsome | rs786200861 |
| LitVar | rs786200861 |
| Map | rs786200861 |
| PheGenI | rs786200861 |
| Biobank | rs786200861 |
| 1000 genomes | rs786200861 |
| hgdp | rs786200861 |
| ensembl | rs786200861 |
| geneview | rs786200861 |
| scholar | rs786200861 |
| rs786200861 | |
| pharmgkb | rs786200861 |
| gwascentral | rs786200861 |
| openSNP | rs786200861 |
| 23andMe | rs786200861 |
| SNPshot | rs786200861 |
| SNPdbe | rs786200861 |
| MSV3d | rs786200861 |
| GWAS Ctlg | rs786200861 |
| Status | Merged into rs62516096 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs786200861(TCT;TCT) |
| Significance | Pathogenic |
| Disease | Phenylketonuria not provided |
| Variation | info |
| Gene | PAH |
| CLNDBN | Phenylketonuria not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103237529_103237531delAGA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000628.4, RCV000088752.1, |
