rs62508698
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a phenylketonuria mutation |
| (G;G) | 0 | common in clinvar |
| Make rs62508698(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 102852819 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs62508698 |
| dbSNP (classic) | rs62508698 |
| ClinGen | rs62508698 |
| ebi | rs62508698 |
| HLI | rs62508698 |
| Exac | rs62508698 |
| Gnomad | rs62508698 |
| Varsome | rs62508698 |
| LitVar | rs62508698 |
| Map | rs62508698 |
| PheGenI | rs62508698 |
| Biobank | rs62508698 |
| 1000 genomes | rs62508698 |
| hgdp | rs62508698 |
| ensembl | rs62508698 |
| geneview | rs62508698 |
| scholar | rs62508698 |
| rs62508698 | |
| pharmgkb | rs62508698 |
| gwascentral | rs62508698 |
| openSNP | rs62508698 |
| 23andMe | rs62508698 |
| SNPshot | rs62508698 |
| SNPdbe | rs62508698 |
| MSV3d | rs62508698 |
| GWAS Ctlg | rs62508698 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs62508698(A;A) rs62508698(C;C) |
| Alt | rs62508698(A;A) rs62508698(C;C) |
| Reference | Rs62508698(G;G) |
| Significance | Pathogenic |
| Disease | not provided Phenylketonuria |
| Variation | info |
| Gene | PAH |
| CLNDBN | not provided Phenylketonuria |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103246597C>G; NC_000012.11:g.103246597C>T |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000089125.1, RCV000000610.7, RCV000078532.6, |
