rs140845195
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | Carrier of a pyridoxine-dependent epilepsy mutation |
| (C;C) | 0 | common in clinvar |
| Make rs140845195(A;A) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 5 |
| Position | 126545020 |
| Gene | ALDH7A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140845195 |
| dbSNP (classic) | rs140845195 |
| ClinGen | rs140845195 |
| ebi | rs140845195 |
| HLI | rs140845195 |
| Exac | rs140845195 |
| Gnomad | rs140845195 |
| Varsome | rs140845195 |
| LitVar | rs140845195 |
| Map | rs140845195 |
| PheGenI | rs140845195 |
| Biobank | rs140845195 |
| 1000 genomes | rs140845195 |
| hgdp | rs140845195 |
| ensembl | rs140845195 |
| geneview | rs140845195 |
| scholar | rs140845195 |
| rs140845195 | |
| pharmgkb | rs140845195 |
| gwascentral | rs140845195 |
| openSNP | rs140845195 |
| 23andMe | rs140845195 |
| SNPshot | rs140845195 |
| SNPdbe | rs140845195 |
| MSV3d | rs140845195 |
| GWAS Ctlg | rs140845195 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs140845195(A;A) rs140845195(T;T) |
| Alt | rs140845195(A;A) rs140845195(T;T) |
| Reference | Rs140845195(C;C) |
| Significance | Pathogenic |
| Disease | Seizures Ventriculomegaly |
| Variation | info |
| Gene | ALDH7A1 |
| CLNDBN | Seizures Ventriculomegaly |
| Reversed | 0 |
| HGVS | NC_000005.9:g.125880712C>A |
| CLNSRC | |
| CLNACC | RCV000414868.1, |
