rs121918623
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121918623(C;T) |
| Make rs121918623(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 166038098 |
| Gene | SCN1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918623 |
| dbSNP (classic) | rs121918623 |
| ClinGen | rs121918623 |
| ebi | rs121918623 |
| HLI | rs121918623 |
| Exac | rs121918623 |
| Gnomad | rs121918623 |
| Varsome | rs121918623 |
| LitVar | rs121918623 |
| Map | rs121918623 |
| PheGenI | rs121918623 |
| Biobank | rs121918623 |
| 1000 genomes | rs121918623 |
| hgdp | rs121918623 |
| ensembl | rs121918623 |
| geneview | rs121918623 |
| scholar | rs121918623 |
| rs121918623 | |
| pharmgkb | rs121918623 |
| gwascentral | rs121918623 |
| openSNP | rs121918623 |
| 23andMe | rs121918623 |
| SNPshot | rs121918623 |
| SNPdbe | rs121918623 |
| MSV3d | rs121918623 |
| GWAS Ctlg | rs121918623 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121918623(A;A) rs121918623(T;T) |
| Alt | rs121918623(A;A) rs121918623(T;T) |
| Reference | Rs121918623(C;C) |
| Significance | Pathogenic |
| Disease | Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy |
| Variation | info |
| Gene | SCN1A |
| CLNDBN | Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy |
| Reversed | 1 |
| HGVS | NC_000002.11:g.166894608G>A; NC_000002.11:g.166894608G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (variants) |
| CLNACC | RCV000013743.24, RCV000059471.1, RCV000059470.1, |
[PMID 20522430] Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
[PMID 10742094] Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
