rs76542238
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a phenylketonuria mutation |
| Make rs76542238(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 12 |
| Position | 102839194 |
| Gene | PAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76542238 |
| dbSNP (classic) | rs76542238 |
| ClinGen | rs76542238 |
| ebi | rs76542238 |
| HLI | rs76542238 |
| Exac | rs76542238 |
| Gnomad | rs76542238 |
| Varsome | rs76542238 |
| LitVar | rs76542238 |
| Map | rs76542238 |
| PheGenI | rs76542238 |
| Biobank | rs76542238 |
| 1000 genomes | rs76542238 |
| hgdp | rs76542238 |
| ensembl | rs76542238 |
| geneview | rs76542238 |
| scholar | rs76542238 |
| rs76542238 | |
| pharmgkb | rs76542238 |
| gwascentral | rs76542238 |
| openSNP | rs76542238 |
| 23andMe | rs76542238 |
| SNPshot | rs76542238 |
| SNPdbe | rs76542238 |
| MSV3d | rs76542238 |
| GWAS Ctlg | rs76542238 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs76542238(T;T) |
| Alt | rs76542238(T;T) |
| Reference | Rs76542238(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PAH |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000012.11:g.103232972G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000088834.1, |
