rs104894629
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs104894629(C;T) |
| Make rs104894629(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 47946681 |
| Gene | PNPO |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894629 |
| dbSNP (classic) | rs104894629 |
| ClinGen | rs104894629 |
| ebi | rs104894629 |
| HLI | rs104894629 |
| Exac | rs104894629 |
| Gnomad | rs104894629 |
| Varsome | rs104894629 |
| LitVar | rs104894629 |
| Map | rs104894629 |
| PheGenI | rs104894629 |
| Biobank | rs104894629 |
| 1000 genomes | rs104894629 |
| hgdp | rs104894629 |
| ensembl | rs104894629 |
| geneview | rs104894629 |
| scholar | rs104894629 |
| rs104894629 | |
| pharmgkb | rs104894629 |
| gwascentral | rs104894629 |
| openSNP | rs104894629 |
| 23andMe | rs104894629 |
| SNPshot | rs104894629 |
| SNPdbe | rs104894629 |
| MSV3d | rs104894629 |
| GWAS Ctlg | rs104894629 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
Also known as PNPO Arg229Trp. Lower PNPO activity with T allele. PNPO produces pyridoxal-5'-phosphate, the bio-active form of vitamin B6.
| ClinVar | |
|---|---|
| Risk | rs104894629(T;T) |
| Alt | rs104894629(T;T) |
| Reference | Rs104894629(C;C) |
| Significance | Pathogenic |
| Disease | Pyridoxal 5'-phosphate-dependent epilepsy |
| Variation | info |
| Gene | PNPO |
| CLNDBN | Pyridoxal 5'-phosphate-dependent epilepsy |
| Reversed | 0 |
| HGVS | NC_000017.10:g.46024047C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006896.3, |
