rs199497486
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a pyridoxine-dependent epilepsy mutation |
| Make rs199497486(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 5 |
| Position | 126592663 |
| Gene | ALDH7A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199497486 |
| dbSNP (classic) | rs199497486 |
| ClinGen | rs199497486 |
| ebi | rs199497486 |
| HLI | rs199497486 |
| Exac | rs199497486 |
| Gnomad | rs199497486 |
| Varsome | rs199497486 |
| LitVar | rs199497486 |
| Map | rs199497486 |
| PheGenI | rs199497486 |
| Biobank | rs199497486 |
| 1000 genomes | rs199497486 |
| hgdp | rs199497486 |
| ensembl | rs199497486 |
| geneview | rs199497486 |
| scholar | rs199497486 |
| rs199497486 | |
| pharmgkb | rs199497486 |
| gwascentral | rs199497486 |
| openSNP | rs199497486 |
| 23andMe | rs199497486 |
| SNPshot | rs199497486 |
| SNPdbe | rs199497486 |
| MSV3d | rs199497486 |
| GWAS Ctlg | rs199497486 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs199497486(T;T) |
| Alt | rs199497486(T;T) |
| Reference | Rs199497486(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | ALDH7A1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000005.9:g.125928355C>T |
| CLNSRC | |
| CLNACC | RCV000255069.1, |
