rs62644499
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5.9 | Non-phenylketonuria hyperphenylalaninemia genotype |
| (A;G) | 3 | Carrier of a non-phenylketonuria hyperphenylalaninemia allele |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 102840472 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs62644499 |
| dbSNP (classic) | rs62644499 |
| ClinGen | rs62644499 |
| ebi | rs62644499 |
| HLI | rs62644499 |
| Exac | rs62644499 |
| Gnomad | rs62644499 |
| Varsome | rs62644499 |
| LitVar | rs62644499 |
| Map | rs62644499 |
| PheGenI | rs62644499 |
| Biobank | rs62644499 |
| 1000 genomes | rs62644499 |
| hgdp | rs62644499 |
| ensembl | rs62644499 |
| geneview | rs62644499 |
| scholar | rs62644499 |
| rs62644499 | |
| pharmgkb | rs62644499 |
| gwascentral | rs62644499 |
| openSNP | rs62644499 |
| 23andMe | rs62644499 |
| SNPshot | rs62644499 |
| SNPdbe | rs62644499 |
| MSV3d | rs62644499 |
| GWAS Ctlg | rs62644499 |
| Max Magnitude | 5.9 |
aka c.1243G>A (p.Asp415Asn)
FTDNA & MyHeritage name: VG12S8248
| ClinVar | |
|---|---|
| Risk | Rs62644499(A;A) |
| Alt | Rs62644499(A;A) |
| Reference | Rs62644499(G;G) |
| Significance | Pathogenic |
| Disease | Hyperphenylalaninemia not provided Phenylketonuria |
| Variation | info |
| Gene | PAH |
| CLNDBN | Hyperphenylalaninemia, non-pku not provided Phenylketonuria |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103234250C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000648.3, RCV000088815.3, RCV000401074.1, |
