rs555896752
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 3 | Carrier of a pyridoxine-dependent epilepsy mutation |
| Make rs555896752(C;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 5 |
| Position | 126577122 |
| Gene | ALDH7A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs555896752 |
| dbSNP (classic) | rs555896752 |
| ClinGen | rs555896752 |
| ebi | rs555896752 |
| HLI | rs555896752 |
| Exac | rs555896752 |
| Gnomad | rs555896752 |
| Varsome | rs555896752 |
| LitVar | rs555896752 |
| Map | rs555896752 |
| PheGenI | rs555896752 |
| Biobank | rs555896752 |
| 1000 genomes | rs555896752 |
| hgdp | rs555896752 |
| ensembl | rs555896752 |
| geneview | rs555896752 |
| scholar | rs555896752 |
| rs555896752 | |
| pharmgkb | rs555896752 |
| gwascentral | rs555896752 |
| openSNP | rs555896752 |
| 23andMe | rs555896752 |
| SNPshot | rs555896752 |
| SNPdbe | rs555896752 |
| MSV3d | rs555896752 |
| GWAS Ctlg | rs555896752 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs555896752(C;C) |
| Alt | rs555896752(C;C) |
| Reference | Rs555896752(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | ALDH7A1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000005.9:g.125912814A>C |
| CLNSRC | |
| CLNACC | RCV000186727.2, |
