rs864622557
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a pyridoxine-dependent epilepsy mutation |
| Make rs864622557(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 126554294 |
| Gene | ALDH7A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs864622557 |
| dbSNP (classic) | rs864622557 |
| ClinGen | rs864622557 |
| ebi | rs864622557 |
| HLI | rs864622557 |
| Exac | rs864622557 |
| Gnomad | rs864622557 |
| Varsome | rs864622557 |
| LitVar | rs864622557 |
| Map | rs864622557 |
| PheGenI | rs864622557 |
| Biobank | rs864622557 |
| 1000 genomes | rs864622557 |
| hgdp | rs864622557 |
| ensembl | rs864622557 |
| geneview | rs864622557 |
| scholar | rs864622557 |
| rs864622557 | |
| pharmgkb | rs864622557 |
| gwascentral | rs864622557 |
| openSNP | rs864622557 |
| 23andMe | rs864622557 |
| SNPshot | rs864622557 |
| SNPdbe | rs864622557 |
| MSV3d | rs864622557 |
| GWAS Ctlg | rs864622557 |
| Max Magnitude | 3 |
aka c.1193G>T (p.Gly398Val)
23andMe name: i709033
| ClinVar | |
|---|---|
| Risk | rs864622557(T;T) |
| Alt | rs864622557(T;T) |
| Reference | Rs864622557(G;G) |
| Significance | Pathogenic |
| Disease | Pyridoxine-dependent epilepsy |
| Variation | info |
| Gene | ALDH7A1 |
| CLNDBN | Pyridoxine-dependent epilepsy |
| Reversed | 1 |
| HGVS | NC_000005.9:g.125889986C>A |
| CLNSRC | |
| CLNACC | RCV000205037.2, |
