rs121918630
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121918630(G;T) |
| Make rs121918630(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 165994167 |
| Gene | LOC102724058, SCN1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918630 |
| dbSNP (classic) | rs121918630 |
| ClinGen | rs121918630 |
| ebi | rs121918630 |
| HLI | rs121918630 |
| Exac | rs121918630 |
| Gnomad | rs121918630 |
| Varsome | rs121918630 |
| LitVar | rs121918630 |
| Map | rs121918630 |
| PheGenI | rs121918630 |
| Biobank | rs121918630 |
| 1000 genomes | rs121918630 |
| hgdp | rs121918630 |
| ensembl | rs121918630 |
| geneview | rs121918630 |
| scholar | rs121918630 |
| rs121918630 | |
| pharmgkb | rs121918630 |
| gwascentral | rs121918630 |
| openSNP | rs121918630 |
| 23andMe | rs121918630 |
| SNPshot | rs121918630 |
| SNPdbe | rs121918630 |
| MSV3d | rs121918630 |
| GWAS Ctlg | rs121918630 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121918630(T;T) |
| Alt | rs121918630(T;T) |
| Reference | Rs121918630(G;G) |
| Significance | Pathogenic |
| Disease | Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus |
| Variation | info |
| Gene | LOC102724058 SCN1A |
| CLNDBN | Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 |
| Reversed | 1 |
| HGVS | NC_000002.11:g.166850677C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (variants) |
| CLNACC | RCV000013756.24, RCV000013757.23, |
[PMID 12566275] Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
