rs76687508
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a phenylketonuria mutation |
| Make rs76687508(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 12 |
| Position | 102852936 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76687508 |
| dbSNP (classic) | rs76687508 |
| ClinGen | rs76687508 |
| ebi | rs76687508 |
| HLI | rs76687508 |
| Exac | rs76687508 |
| Gnomad | rs76687508 |
| Varsome | rs76687508 |
| LitVar | rs76687508 |
| Map | rs76687508 |
| PheGenI | rs76687508 |
| Biobank | rs76687508 |
| 1000 genomes | rs76687508 |
| hgdp | rs76687508 |
| ensembl | rs76687508 |
| geneview | rs76687508 |
| scholar | rs76687508 |
| rs76687508 | |
| pharmgkb | rs76687508 |
| gwascentral | rs76687508 |
| openSNP | rs76687508 |
| 23andMe | rs76687508 |
| SNPshot | rs76687508 |
| SNPdbe | rs76687508 |
| MSV3d | rs76687508 |
| GWAS Ctlg | rs76687508 |
| Max Magnitude | 3 |
aka c.721C>T (p.Arg241Cys)
FTDNA & MyHeritage name: VG12S8401
| ClinVar | |
|---|---|
| Risk | rs76687508(T;T) |
| Alt | rs76687508(T;T) |
| Reference | Rs76687508(C;C) |
| Significance | Pathogenic |
| Disease | not provided Phenylketonuria |
| Variation | info |
| Gene | PAH |
| CLNDBN | not provided Phenylketonuria |
| Reversed | 1 |
| HGVS | NC_000012.11:g.103246714G>A |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000089054.3, RCV000153635.4, |
