rs786200862
From SNPedia
| Merged into | rs62516097 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (TCTCCCCCTGGAGCT;TCTCCCCCTGGAGCT) | 0 | common in clinvar |
| Make rs786200862(-;-) |
| Make rs786200862(-;TCTCCCCCTGGAGCT) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 102843739 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786200862 |
| dbSNP (classic) | rs786200862 |
| ClinGen | rs786200862 |
| ebi | rs786200862 |
| HLI | rs786200862 |
| Exac | rs786200862 |
| Gnomad | rs786200862 |
| Varsome | rs786200862 |
| LitVar | rs786200862 |
| Map | rs786200862 |
| PheGenI | rs786200862 |
| Biobank | rs786200862 |
| 1000 genomes | rs786200862 |
| hgdp | rs786200862 |
| ensembl | rs786200862 |
| geneview | rs786200862 |
| scholar | rs786200862 |
| rs786200862 | |
| pharmgkb | rs786200862 |
| gwascentral | rs786200862 |
| openSNP | rs786200862 |
| 23andMe | rs786200862 |
| SNPshot | rs786200862 |
| SNPdbe | rs786200862 |
| MSV3d | rs786200862 |
| GWAS Ctlg | rs786200862 |
| Status | Merged into rs62516097 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs786200862(TCTCCCCCTGGAGCT;TCTCCCCCTGGAGCT) |
| Significance | Pathogenic |
| Disease | Phenylketonuria not provided |
| Variation | info |
| Gene | PAH |
| CLNDBN | Phenylketonuria not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103237517_103237531delAGCTCCAGGGGGAGA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000651.3, RCV000088753.1, |
