rs202151337
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs202151337(A;G) |
| Make rs202151337(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 51806788 |
| Gene | SCN8A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202151337 |
| dbSNP (classic) | rs202151337 |
| ClinGen | rs202151337 |
| ebi | rs202151337 |
| HLI | rs202151337 |
| Exac | rs202151337 |
| Gnomad | rs202151337 |
| Varsome | rs202151337 |
| LitVar | rs202151337 |
| Map | rs202151337 |
| PheGenI | rs202151337 |
| Biobank | rs202151337 |
| 1000 genomes | rs202151337 |
| hgdp | rs202151337 |
| ensembl | rs202151337 |
| geneview | rs202151337 |
| scholar | rs202151337 |
| rs202151337 | |
| pharmgkb | rs202151337 |
| gwascentral | rs202151337 |
| openSNP | rs202151337 |
| 23andMe | rs202151337 |
| SNPshot | rs202151337 |
| SNPdbe | rs202151337 |
| MSV3d | rs202151337 |
| GWAS Ctlg | rs202151337 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs202151337(G;G) |
| Alt | rs202151337(G;G) |
| Reference | Rs202151337(A;A) |
| Significance | Pathogenic |
| Disease | Early infantile epileptic encephalopathy 13 |
| Variation | info |
| Gene | SCN8A |
| CLNDBN | Early infantile epileptic encephalopathy 13 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.52200572A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023031.4, |
