rs62509015
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a phenylketonuria mutation |
| (C;G) | 3 | Carrier of a phenylketonuria mutation |
| (G;G) | 0 | common in clinvar |
| Make rs62509015(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 12 |
| Position | 102843645 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs62509015 |
| dbSNP (classic) | rs62509015 |
| ClinGen | rs62509015 |
| ebi | rs62509015 |
| HLI | rs62509015 |
| Exac | rs62509015 |
| Gnomad | rs62509015 |
| Varsome | rs62509015 |
| LitVar | rs62509015 |
| Map | rs62509015 |
| PheGenI | rs62509015 |
| Biobank | rs62509015 |
| 1000 genomes | rs62509015 |
| hgdp | rs62509015 |
| ensembl | rs62509015 |
| geneview | rs62509015 |
| scholar | rs62509015 |
| rs62509015 | |
| pharmgkb | rs62509015 |
| gwascentral | rs62509015 |
| openSNP | rs62509015 |
| 23andMe | rs62509015 |
| SNPshot | rs62509015 |
| SNPdbe | rs62509015 |
| MSV3d | rs62509015 |
| GWAS Ctlg | rs62509015 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs62509015(A;A) rs62509015(C;C) rs62509015(T;T) |
| Alt | rs62509015(A;A) rs62509015(C;C) rs62509015(T;T) |
| Reference | Rs62509015(G;G) |
| Significance | Pathogenic |
| Disease | not provided Phenylketonuria |
| Variation | info |
| Gene | PAH |
| CLNDBN | not provided Phenylketonuria |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103237423C>G; NC_000012.11:g.103237423C>T |
| CLNSRC | |
| CLNACC | RCV000088791.3, RCV000169248.1, RCV000088790.1, |
