rs794727362
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs794727362(A;G) |
| Make rs794727362(G;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 12 |
| Position | 51786584 |
| Gene | SCN8A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794727362 |
| dbSNP (classic) | rs794727362 |
| ClinGen | rs794727362 |
| ebi | rs794727362 |
| HLI | rs794727362 |
| Exac | rs794727362 |
| Gnomad | rs794727362 |
| Varsome | rs794727362 |
| LitVar | rs794727362 |
| Map | rs794727362 |
| PheGenI | rs794727362 |
| Biobank | rs794727362 |
| 1000 genomes | rs794727362 |
| hgdp | rs794727362 |
| ensembl | rs794727362 |
| geneview | rs794727362 |
| scholar | rs794727362 |
| rs794727362 | |
| pharmgkb | rs794727362 |
| gwascentral | rs794727362 |
| openSNP | rs794727362 |
| 23andMe | rs794727362 |
| SNPshot | rs794727362 |
| SNPdbe | rs794727362 |
| MSV3d | rs794727362 |
| GWAS Ctlg | rs794727362 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs794727362(G;G) |
| Alt | rs794727362(G;G) |
| Reference | Rs794727362(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not provided Early infantile epileptic encephalopathy 13 |
| Variation | info |
| Gene | SCN8A |
| CLNDBN | not provided Early infantile epileptic encephalopathy 13 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.52180368A>G |
| CLNSRC | |
| CLNACC | RCV000176315.1, RCV000285972.1, |
