rs770334825
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs770334825(A;G) |
| Make rs770334825(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 10 |
| Position | 70883952 |
| Gene | PCBD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs770334825 |
| dbSNP (classic) | rs770334825 |
| ClinGen | rs770334825 |
| ebi | rs770334825 |
| HLI | rs770334825 |
| Exac | rs770334825 |
| Gnomad | rs770334825 |
| Varsome | rs770334825 |
| LitVar | rs770334825 |
| Map | rs770334825 |
| PheGenI | rs770334825 |
| Biobank | rs770334825 |
| 1000 genomes | rs770334825 |
| hgdp | rs770334825 |
| ensembl | rs770334825 |
| geneview | rs770334825 |
| scholar | rs770334825 |
| rs770334825 | |
| pharmgkb | rs770334825 |
| gwascentral | rs770334825 |
| openSNP | rs770334825 |
| 23andMe | rs770334825 |
| SNPshot | rs770334825 |
| SNPdbe | rs770334825 |
| MSV3d | rs770334825 |
| GWAS Ctlg | rs770334825 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs770334825(G;G) |
| Alt | rs770334825(G;G) |
| Reference | Rs770334825(A;A) |
| Significance | Pathogenic |
| Disease | Hyperphenylalaninemia |
| Variation | info |
| Gene | PCBD1 |
| CLNDBN | Hyperphenylalaninemia, BH4-deficient, D |
| Reversed | 0 |
| HGVS | NC_000010.10:g.72643709A>G |
| CLNSRC | |
| CLNACC | RCV000492299.1, |
