rs777829351
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs777829351(C;C) |
| Make rs777829351(C;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 5 |
| Position | 126575451 |
| Gene | ALDH7A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs777829351 |
| dbSNP (classic) | rs777829351 |
| ClinGen | rs777829351 |
| ebi | rs777829351 |
| HLI | rs777829351 |
| Exac | rs777829351 |
| Gnomad | rs777829351 |
| Varsome | rs777829351 |
| LitVar | rs777829351 |
| Map | rs777829351 |
| PheGenI | rs777829351 |
| Biobank | rs777829351 |
| 1000 genomes | rs777829351 |
| hgdp | rs777829351 |
| ensembl | rs777829351 |
| geneview | rs777829351 |
| scholar | rs777829351 |
| rs777829351 | |
| pharmgkb | rs777829351 |
| gwascentral | rs777829351 |
| openSNP | rs777829351 |
| 23andMe | rs777829351 |
| SNPshot | rs777829351 |
| SNPdbe | rs777829351 |
| MSV3d | rs777829351 |
| GWAS Ctlg | rs777829351 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs777829351(C;C) |
| Alt | rs777829351(C;C) |
| Reference | Rs777829351(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not provided Pyridoxine-dependent epilepsy |
| Variation | info |
| Gene | ALDH7A1 |
| CLNDBN | not provided Pyridoxine-dependent epilepsy |
| Reversed | 0 |
| HGVS | NC_000005.9:g.125911143T>C |
| CLNSRC | |
| CLNACC | RCV000186729.2, RCV000466667.1, |
