rs186558364
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 3 | Carrier of a pyridoxine-dependent epilepsy mutation |
| (T;T) | 0 | common in clinvar |
| Make rs186558364(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 5 |
| Position | 126550236 |
| Gene | ALDH7A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs186558364 |
| dbSNP (classic) | rs186558364 |
| ClinGen | rs186558364 |
| ebi | rs186558364 |
| HLI | rs186558364 |
| Exac | rs186558364 |
| Gnomad | rs186558364 |
| Varsome | rs186558364 |
| LitVar | rs186558364 |
| Map | rs186558364 |
| PheGenI | rs186558364 |
| Biobank | rs186558364 |
| 1000 genomes | rs186558364 |
| hgdp | rs186558364 |
| ensembl | rs186558364 |
| geneview | rs186558364 |
| scholar | rs186558364 |
| rs186558364 | |
| pharmgkb | rs186558364 |
| gwascentral | rs186558364 |
| openSNP | rs186558364 |
| 23andMe | rs186558364 |
| SNPshot | rs186558364 |
| SNPdbe | rs186558364 |
| MSV3d | rs186558364 |
| GWAS Ctlg | rs186558364 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs186558364(A;A) rs186558364(C;C) |
| Alt | rs186558364(A;A) rs186558364(C;C) |
| Reference | Rs186558364(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | ALDH7A1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000005.9:g.125885928T>A |
| CLNSRC | |
| CLNACC | RCV000186747.1, |
