rs794726860
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs794726860(C;T) |
| Make rs794726860(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 3 |
| Position | 11025786 |
| Gene | SLC6A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794726860 |
| dbSNP (classic) | rs794726860 |
| ClinGen | rs794726860 |
| ebi | rs794726860 |
| HLI | rs794726860 |
| Exac | rs794726860 |
| Gnomad | rs794726860 |
| Varsome | rs794726860 |
| LitVar | rs794726860 |
| Map | rs794726860 |
| PheGenI | rs794726860 |
| Biobank | rs794726860 |
| 1000 genomes | rs794726860 |
| hgdp | rs794726860 |
| ensembl | rs794726860 |
| geneview | rs794726860 |
| scholar | rs794726860 |
| rs794726860 | |
| pharmgkb | rs794726860 |
| gwascentral | rs794726860 |
| openSNP | rs794726860 |
| 23andMe | rs794726860 |
| SNPshot | rs794726860 |
| SNPdbe | rs794726860 |
| MSV3d | rs794726860 |
| GWAS Ctlg | rs794726860 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs794726860(T;T) |
| Alt | rs794726860(T;T) |
| Reference | Rs794726860(C;C) |
| Significance | Pathogenic |
| Disease | Myoclonic-atonic epilepsy not provided |
| Variation | info |
| Gene | SLC6A1 |
| CLNDBN | Myoclonic-atonic epilepsy not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.11067472C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000172998.2, RCV000414233.1, |
