rs796053353
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 8 | Early infantile epileptic encephalopathy, type 4 |
| Make rs796053353(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 127661192 |
| Gene | STXBP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796053353 |
| dbSNP (classic) | rs796053353 |
| ClinGen | rs796053353 |
| ebi | rs796053353 |
| HLI | rs796053353 |
| Exac | rs796053353 |
| Gnomad | rs796053353 |
| Varsome | rs796053353 |
| LitVar | rs796053353 |
| Map | rs796053353 |
| PheGenI | rs796053353 |
| Biobank | rs796053353 |
| 1000 genomes | rs796053353 |
| hgdp | rs796053353 |
| ensembl | rs796053353 |
| geneview | rs796053353 |
| scholar | rs796053353 |
| rs796053353 | |
| pharmgkb | rs796053353 |
| gwascentral | rs796053353 |
| openSNP | rs796053353 |
| 23andMe | rs796053353 |
| SNPshot | rs796053353 |
| SNPdbe | rs796053353 |
| MSV3d | rs796053353 |
| GWAS Ctlg | rs796053353 |
| Max Magnitude | 8 |
| ClinVar | |
|---|---|
| Risk | rs796053353(T;T) |
| Alt | rs796053353(T;T) |
| Reference | Rs796053353(C;C) |
| Significance | Pathogenic |
| Disease | not provided Early infantile epileptic encephalopathy 4 |
| Variation | info |
| Gene | STXBP1 |
| CLNDBN | not provided Early infantile epileptic encephalopathy 4 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.130423471C>T |
| CLNSRC | |
| CLNACC | RCV000189597.3, RCV000416131.1, |
