rs672601294
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 3 | Carrier of a phenylketonuria mutation |
| (C;C) | 0 | common in clinvar |
| Make rs672601294(-;-) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 12 |
| Position | 102894897 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs672601294 |
| dbSNP (classic) | rs672601294 |
| ClinGen | rs672601294 |
| ebi | rs672601294 |
| HLI | rs672601294 |
| Exac | rs672601294 |
| Gnomad | rs672601294 |
| Varsome | rs672601294 |
| LitVar | rs672601294 |
| Map | rs672601294 |
| PheGenI | rs672601294 |
| Biobank | rs672601294 |
| 1000 genomes | rs672601294 |
| hgdp | rs672601294 |
| ensembl | rs672601294 |
| geneview | rs672601294 |
| scholar | rs672601294 |
| rs672601294 | |
| pharmgkb | rs672601294 |
| gwascentral | rs672601294 |
| openSNP | rs672601294 |
| 23andMe | rs672601294 |
| SNPshot | rs672601294 |
| SNPdbe | rs672601294 |
| MSV3d | rs672601294 |
| GWAS Ctlg | rs672601294 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs672601294(-;-) |
| Alt | rs672601294(-;-) |
| Reference | Rs672601294(C;C) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | PAH |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103288675delG |
| CLNSRC | |
| CLNACC | RCV000088863.1, |
