rs74503222
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a phenylketonuria mutation |
| (G;G) | 0 | common in clinvar |
| Make rs74503222(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 12 |
| Position | 102852912 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74503222 |
| dbSNP (classic) | rs74503222 |
| ClinGen | rs74503222 |
| ebi | rs74503222 |
| HLI | rs74503222 |
| Exac | rs74503222 |
| Gnomad | rs74503222 |
| Varsome | rs74503222 |
| LitVar | rs74503222 |
| Map | rs74503222 |
| PheGenI | rs74503222 |
| Biobank | rs74503222 |
| 1000 genomes | rs74503222 |
| hgdp | rs74503222 |
| ensembl | rs74503222 |
| geneview | rs74503222 |
| scholar | rs74503222 |
| rs74503222 | |
| pharmgkb | rs74503222 |
| gwascentral | rs74503222 |
| openSNP | rs74503222 |
| 23andMe | rs74503222 |
| SNPshot | rs74503222 |
| SNPdbe | rs74503222 |
| MSV3d | rs74503222 |
| GWAS Ctlg | rs74503222 |
| Max Magnitude | 3 |
aka c.745C>T (p.Leu249Phe)
FTDNA & MyHeritage name: VG12S8420
| ClinVar | |
|---|---|
| Risk | rs74503222(A;A) |
| Alt | rs74503222(A;A) |
| Reference | Rs74503222(G;G) |
| Significance | Pathogenic |
| Disease | not provided Phenylketonuria |
| Variation | info |
| Gene | PAH |
| CLNDBN | not provided Phenylketonuria |
| Reversed | 0 |
| HGVS | NC_000012.11:g.103246690G>A |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000089076.3, RCV000153634.3, |
