rs794726959
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs794726959(A;A) |
| Make rs794726959(A;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 25015708 |
| Gene | ARX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794726959 |
| dbSNP (classic) | rs794726959 |
| ClinGen | rs794726959 |
| ebi | rs794726959 |
| HLI | rs794726959 |
| Exac | rs794726959 |
| Gnomad | rs794726959 |
| Varsome | rs794726959 |
| LitVar | rs794726959 |
| Map | rs794726959 |
| PheGenI | rs794726959 |
| Biobank | rs794726959 |
| 1000 genomes | rs794726959 |
| hgdp | rs794726959 |
| ensembl | rs794726959 |
| geneview | rs794726959 |
| scholar | rs794726959 |
| rs794726959 | |
| pharmgkb | rs794726959 |
| gwascentral | rs794726959 |
| openSNP | rs794726959 |
| 23andMe | rs794726959 |
| SNPshot | rs794726959 |
| SNPdbe | rs794726959 |
| MSV3d | rs794726959 |
| GWAS Ctlg | rs794726959 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs794726959(A;A) |
| Alt | rs794726959(A;A) |
| Reference | Rs794726959(C;C) |
| Significance | Pathogenic |
| Disease | Epileptic encephalopathy |
| Variation | info |
| Gene | ARX |
| CLNDBN | Epileptic encephalopathy, early infantile, 1 |
| Reversed | 1 |
| HGVS | NC_000023.10:g.25033825G>T |
| CLNSRC | |
| CLNACC | RCV000173566.1, |
